ClinVar Miner

Variants with conflicting interpretations "benign" from Department of Pathology and Laboratory Medicine, Sinai Health System and "likely pathogenic" from any submitter

Minimum review status of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System: Collection method of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011

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