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h1: CSER-bake off node
p: The National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI) have initiated a Clinical Sequencing Exploratory Research (CSER) program to support multidimensional research in this area. CSER conducts bake-off experiments where overlapping set of variants are curated by leading clinical-genetics testing centers. The evidence tags populated by curators and generated assertions are systematically compared with the assertion generated by pathogenicity calculator, a key component of ClinGenKB infrastructure.
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h1: CSER Bake off summary
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| Allele | site1 | site2 | site3 | site4 | site5 | site6 | site7 | site8 | site9 |
| CA090928 | Likely Pathogenic | Pathogenic | Likely Pathogenic | Pathogenic | Pathogenic | Pathogenic | Pathogenic | Pathogenic | Likely Pathogenic |
| CA090905 | Benign | Benign | Benign | ||||||
| CA090899 | Likely Pathogenic | Likely Pathogenic | Likely Pathogenic | ||||||
| CA000387 | Pathogenic | Pathogenic | Likely Pathogenic | ||||||
| CA008761 | Uncertain Significance | Uncertain Significance | Benign | ||||||
| CA008351 | Benign | Likely Benign | Benign | ||||||
| CA090925 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
| CA090945 | Likely Pathogenic | Pathogenic | Uncertain Significance | ||||||
| CA012936 | Pathogenic | Uncertain Significance | Likely Pathogenic | ||||||
| CA009809 | Likely Benign | Benign | Uncertain Significance | ||||||
| CA090921 | Pathogenic | Benign | Uncertain Significance | ||||||
| CA090917 | Pathogenic | Pathogenic | Pathogenic | ||||||
| CA090913 | Likely Pathogenic | Pathogenic | Likely Pathogenic | ||||||
| CA090943 | Likely Pathogenic | Likely Pathogenic | Likely Pathogenic | ||||||
| CA021744 | Uncertain Significance | Likely Pathogenic | Likely Pathogenic | ||||||
| CA090947 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
| CA090941 | Uncertain Significance | Uncertain Significance | Likely Pathogenic | ||||||
| CA090914 | Uncertain Significance | Likely Benign | Uncertain Significance | ||||||
| CA008448 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
| CA090939 | Uncertain Significance | Uncertain Significance | Uncertain Significance | Uncertain Significance | Uncertain Significance | Uncertain Significance | Likely Pathogenic | Uncertain Significance | Uncertain Significance |
| CA002038 | Likely Benign | Benign | Uncertain Significance | ||||||
| CA090940 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
| CA000204 | Pathogenic | Pathogenic | Likely Pathogenic | ||||||
| CA090898 | Likely Pathogenic | Pathogenic | Pathogenic | ||||||
| CA009190 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
| CA090942 | Uncertain Significance | Likely Pathogenic | Uncertain Significance | ||||||
| CA090888 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
| CA021817 | Benign | Uncertain Significance | Likely Benign | ||||||
| CA020822 | Uncertain Significance | Likely Benign | Likely Benign | Likely Benign | Likely Benign | Likely Benign | Uncertain Significance | Likely Benign | Likely Benign |
| CA013604 | Uncertain Significance | Likely Benign | Uncertain Significance | ||||||
| CA024433 | Uncertain Significance | Likely Benign | Likely Benign | ||||||
| CA016212 | Benign | Benign | Likely Benign | ||||||
| CA024057 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
| CA011761 | Pathogenic | Pathogenic | Likely Pathogenic | ||||||
| CA090884 | Pathogenic | Pathogenic | Pathogenic | Pathogenic | Likely Pathogenic | Pathogenic | Likely Pathogenic | Uncertain Significance | Uncertain Significance |
| CA090903 | Likely Pathogenic | Pathogenic | Likely Pathogenic | ||||||
| CA090920 | Uncertain Significance | Uncertain Significance | Likely Pathogenic | ||||||
| CA090948 | Likely Pathogenic | Pathogenic | Likely Pathogenic | ||||||
| CA090900 | Benign | Benign | Benign | ||||||
| CA019451 | Uncertain Significance | Likely Benign | Uncertain Significance | ||||||
| CA090909 | Likely Benign | Uncertain Significance | Uncertain Significance | ||||||
| CA090886 | Benign | Uncertain Significance | Uncertain Significance | ||||||
| CA090887 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
| CA090937 | Pathogenic | Pathogenic | Pathogenic | ||||||
| CA090952 | Pathogenic | Pathogenic | Pathogenic | ||||||
| CA090931 | Likely Pathogenic | Uncertain Significance | Uncertain Significance | ||||||
| CA090946 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
| CA090938 | Uncertain Significance | Likely Pathogenic | Likely Pathogenic | ||||||
| CA090918 | Uncertain Significance | Benign | Benign | ||||||
| CA090885 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
| CA090926 | Benign | Uncertain Significance | Uncertain Significance | ||||||
| CA090910 | Pathogenic | Likely Pathogenic | Likely Pathogenic | ||||||
| CA090901 | Pathogenic | Pathogenic | Pathogenic | ||||||
| CA090924 | Likely Benign | Uncertain Significance | Uncertain Significance | Uncertain Significance | Uncertain Significance | Likely Benign | Uncertain Significance | Uncertain Significance | Uncertain Significance |
| CA015432 | Benign | Uncertain Significance | Likely Benign | ||||||
| CA090908 | Benign | Uncertain Significance | Likely Benign | ||||||
| CA090927 | Likely Pathogenic | Likely Pathogenic | Pathogenic | ||||||
| "":http://genboree.org/java-bin/clingenpV1.9.jsp?conf=csersite&ca= | Uncertain Significance | Likely Pathogenic | Pathogenic | Uncertain Significance | |||||
| CA090897 | Pathogenic | Pathogenic | Pathogenic | ||||||
| CA090889 | Likely Pathogenic | Uncertain Significance | Likely Pathogenic | Likely Pathogenic | Likely Pathogenic | Likely Pathogenic | Likely Pathogenic | Likely Pathogenic | Likely Pathogenic |
| CA090929 | Likely Pathogenic | Likely Pathogenic | Likely Pathogenic | ||||||
| CA090933 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
| CA017597 | Benign | Pathogenic | Benign | ||||||
| CA090912 | Likely Pathogenic | Pathogenic | Uncertain Significance | ||||||
| CA090894 | - | ||||||||
| CA090893 | Uncertain Significance | ||||||||
| CA010235 | Uncertain Significance | Likely Benign | Uncertain Significance | ||||||
| CA090907 | Benign | Benign | Benign | ||||||
| CA090950 | Uncertain Significance | Uncertain Significance | Likely Benign | ||||||
| CA012232 | Uncertain Significance | Uncertain Significance | Benign | Uncertain Significance | Likely Benign | ||||
| CA090915 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
| CA022880 | Pathogenic | Pathogenic | Likely Pathogenic | ||||||
| CA021883 | Pathogenic | Uncertain Significance | Likely Pathogenic | ||||||
| CA090919 | Likely Pathogenic | Likely Pathogenic | Uncertain Significance | Likely Pathogenic | Likely Pathogenic | Uncertain Significance | Likely Pathogenic | Likely Pathogenic | Uncertain Significance |
| CA090906 | Uncertain Significance | Likely Pathogenic | Likely Pathogenic | ||||||
| CA090953 | Likely Pathogenic | Pathogenic | Likely Pathogenic | ||||||
| CA090904 | Pathogenic | Likely Pathogenic | Likely Pathogenic | ||||||
| CA090896 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
| CA090930 | Likely Pathogenic | Uncertain Significance | Uncertain Significance | ||||||
| CA090922 | Likely Pathogenic | Pathogenic | Uncertain Significance | ||||||
| CA090902 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
| CA004451 | Pathogenic | Likely Pathogenic | Pathogenic | ||||||
| CA090916 | Uncertain Significance | Uncertain Significance | Benign | ||||||
| CA090944 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
| CA090890 | Pathogenic | Pathogenic | Pathogenic | ||||||
| CA090911 | Uncertain Significance | Uncertain Significance | Likely Pathogenic | ||||||
| CA006474 | Likely Benign | Uncertain Significance | Benign | Likely Benign | Uncertain Significance | Benign | Benign | Benign | Uncertain Significance |
| CA026468 | Uncertain Significance | Likely Benign | Benign | ||||||
| CA017654 | Likely Pathogenic | Uncertain Significance | Pathogenic | ||||||
| CA090923 | Pathogenic | Likely Pathogenic | Uncertain Significance | ||||||
| CA004058 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
| CA024311 | Pathogenic | Likely Pathogenic | Pathogenic | ||||||
| CA090951 | Pathogenic | Uncertain Significance | Pathogenic | ||||||
| CA090949 | Uncertain Significance | Likely Benign | Uncertain Significance | ||||||
| CA090936 | Uncertain Significance | Uncertain Significance | Likely Pathogenic | ||||||
| CA090935 | Pathogenic | Likely Pathogenic | Pathogenic | ||||||
| CA090895 | Uncertain Significance | Uncertain Significance | Likely Benign | ||||||
| CA090932 | Likely Pathogenic | Likely Pathogenic | Pathogenic | Pathogenic | Pathogenic | Likely Pathogenic | Likely Pathogenic | Likely Pathogenic | Pathogenic |
| CA090891 | Benign | Benign | Benign |
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