ClinVar Miner

Variants with conflicting interpretations "benign" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "likely benign" from CSER _CC_NCGL, University of Washington

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000251.2(MSH2):c.499G>C (p.Asp167His) rs63750255
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087

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