ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Color Health, Inc and "pathogenic" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum review status of the submission from Color Health, Inc: Collection method of the submission from Color Health, Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) rs748554592
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.190+4A>T rs769446356
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165

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