ClinVar Miner

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

Minimum review status of the submission from Color Diagnostics, LLC DBA Color Health: Collection method of the submission from Color Diagnostics, LLC DBA Color Health:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 32
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00024
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 0.00009
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu) rs201573863 0.00009
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) rs755449669 0.00003
NM_000527.5(LDLR):c.1474G>C (p.Asp492His) rs373646964 0.00003
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082 0.00002
NM_000053.4(ATP7B):c.2762G>A (p.Ser921Asn) rs1230241288 0.00001
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys) rs797044776 0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) rs748554592 0.00001
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917 0.00001
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) rs193922608 0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661 0.00001
NM_020975.6(RET):c.2752A>G (p.Met918Val) rs377767442 0.00001
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.5(LDLR):c.809G>A (p.Cys270Tyr) rs879254683
NM_000527.5(LDLR):c.940+3_940+6del rs2077315885
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del) rs72558452
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) rs112602953
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571

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