ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto and "pathogenic" from any submitter

Minimum review status of the submission from Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto: Collection method of the submission from Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) rs80357064 0.00001
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly) rs80357164
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751

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