ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Color Health, Inc and "benign" from any submitter

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: 23
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HGVS dbSNP
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.6(APC):c.730-3C>T rs786203125
NM_000059.3(BRCA2):c.8420C>T (p.Ser2807Leu) rs55763607
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000249.3(MLH1):c.1730C>T (p.Ser577Leu) rs56185292
NM_000256.3(MYBPC3):c.3148G>A (p.Glu1050Lys) rs780449220
NM_000384.3(APOB):c.12088-13del rs751121092
NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys) rs61741164
NM_000527.5(LDLR):c.1063A>G (p.Ile355Val) rs879254776
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.5(LDLR):c.2251C>T (p.Arg751Trp)
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr) rs759440817
NM_000527.5(LDLR):c.434T>C (p.Val145Ala) rs776872913
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_001048171.1(MUTYH):c.1434+2C>T rs140288388
NM_007294.4(BRCA1):c.5419A>G (p.Ile1807Val) rs786202721
NM_174936.3(PCSK9):c.385G>A (p.Asp129Asn)

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