ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "uncertain significance" from any submitter

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: 33
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HGVS dbSNP
NM_000038.6(APC):c.1495C>G (p.Arg499Gly) rs137854580
NM_000038.6(APC):c.2297C>T (p.Ala766Val) rs200339830
NM_000038.6(APC):c.2438A>G (p.Asn813Ser) rs201522866
NM_000038.6(APC):c.2677G>A (p.Glu893Lys) rs199740875
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097
NM_000053.4(ATP7B):c.-123_-119dupCGCCG rs148013251
NM_000059.3(BRCA2):c.3562A>G (p.Ile1188Val) rs202230438
NM_000059.3(BRCA2):c.8687G>A (p.Arg2896His) rs80359128
NM_000077.4(CDKN2A):c.373G>C (p.Asp125His) rs146179135
NM_000138.4(FBN1):c.5788+5G>T rs193922219
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000245.4(MET):c.1306G>C (p.Glu436Gln) rs200740468
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361
NM_000457.4(HNF4A):c.1387A>G (p.Ile463Val) rs147638455
NM_000492.3(CFTR):c.3139+8A>G rs193922517
NM_000518.5(HBB):c.93-23T>C rs111851677
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu) rs201921616
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_001048171.1(MUTYH):c.1378C>T (p.Arg460Cys) rs200229669
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183
NM_003000.3(SDHB):c.638T>C (p.Met213Thr) rs202014362
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) rs138281308
NM_005912.3(MC4R):c.677T>C (p.Ile226Thr) rs193922686
NM_007294.4(BRCA1):c.1849A>G (p.Thr617Ala) rs45564238
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470

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