In cases of variants getting InterVar as a call, when there is both pathogenic calls (PVS1, PS, PM, PP) and benign calls (BA1, BS, BP) it should be getting VUS call under Richards et al. table 5 with clause "the criteria for benign and pathogenic are contradictory”
naqvia
commented
1 year ago
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In cases of variants getting InterVar as a call, when there is both pathogenic calls (PVS1, PS, PM, PP) and benign calls (BA1, BS, BP) it should be getting VUS call under Richards et al. table 5 with clause "the criteria for benign and pathogenic are contradictory”
some example variants
19-48703728-G-A 6-46716485-C-T
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