ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "pathogenic" from Genetic Services Laboratory,University of Chicago

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: 6
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HGVS dbSNP gnomAD frequency
NM_032957.4(RTEL1):c.3028C>T rs373740199 0.00013
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_000053.4(ATP7B):c.2122-8T>G rs193922102 0.00001
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) rs111033335

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