ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from GeneDx and "uncertain significance" from any submitter

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Total variants with conflicting interpretations: 67
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HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn) rs201177696 0.00052
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_024426.6(WT1):c.1063T>C (p.Cys355Arg) rs142059681 0.00044
NM_006206.6(PDGFRA):c.1285G>A (p.Gly429Arg) rs150577828 0.00034
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His) rs146179135 0.00022
NM_001126108.2(SLC12A3):c.2310C>T (p.Gly770=) rs375542454 0.00020
NM_000143.4(FH):c.883G>A (p.Ala295Thr) rs145843819 0.00018
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_006206.6(PDGFRA):c.2291G>A (p.Arg764His) rs141047712 0.00015
NM_000222.3(KIT):c.2263G>A (p.Ala755Thr) rs201165084 0.00013
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097 0.00012
NM_000203.5(IDUA):c.299+1368C>T rs376289512 0.00010
NM_006206.6(PDGFRA):c.1099G>A (p.Val367Met) rs147982027 0.00010
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) rs200945282 0.00009
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_000316.3(PTH1R):c.1304C>T (p.Thr435Met) rs387907460 0.00006
NM_006206.6(PDGFRA):c.896T>C (p.Val299Ala) rs200033396 0.00006
NM_000038.6(APC):c.2438A>G (p.Asn813Ser) rs201522866 0.00005
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828 0.00005
NM_000038.6(APC):c.2297C>T (p.Ala766Val) rs200339830 0.00004
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637 0.00004
NM_000143.4(FH):c.1421C>G (p.Thr474Arg) rs369802820 0.00004
NM_000143.4(FH):c.346A>T (p.Ile116Phe) rs201532589 0.00004
NM_000245.4(MET):c.1019A>G (p.Asp340Gly) rs200690492 0.00004
NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys) rs200229669 0.00004
NM_001370259.2(MEN1):c.774G>C (p.Gln258His) rs374659656 0.00004
NM_006206.6(PDGFRA):c.1700C>T (p.Pro567Leu) rs201503614 0.00004
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg) rs200042995 0.00004
NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly) rs200911550 0.00004
NM_000038.6(APC):c.379A>G (p.Ser127Gly) rs200089324 0.00003
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245 0.00003
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala) rs201037977 0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_004329.3(BMPR1A):c.1596C>G (p.Ile532Met) rs201345248 0.00003
NM_004360.5(CDH1):c.671G>A (p.Arg224His) rs201511530 0.00003
NM_144997.7(FLCN):c.586A>G (p.Ile196Val) rs201078144 0.00003
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410 0.00002
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531 0.00002
NM_001127898.4(CLCN5):c.1828G>A (p.Ala610Thr) rs387907403 0.00002
NM_007294.4(BRCA1):c.2783G>A (p.Gly928Asp) rs202004680 0.00002
NM_000038.6(APC):c.2677G>A (p.Glu893Lys) rs199740875 0.00001
NM_000038.6(APC):c.695G>A (p.Arg232Gln) rs201727026 0.00001
NM_000038.6(APC):c.7766A>G (p.Glu2589Gly) rs200406572 0.00001
NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val) rs202230438 0.00001
NM_000143.4(FH):c.908T>C (p.Leu303Ser) rs201502246 0.00001
NM_000535.7(PMS2):c.733C>A (p.Leu245Met) rs201375580 0.00001
NM_003002.4(SDHD):c.400T>G (p.Leu134Val) rs200851392 0.00001
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470 0.00001
NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys) rs200432771 0.00001
NM_017433.5(MYO3A):c.2845G>T (p.Val949Phe) rs483352742 0.00001
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) rs199718928 0.00001
NM_000038.6(APC):c.420G>C (p.Glu140Asp) rs202161017
NM_000038.6(APC):c.4375_4377del (p.Thr1459del) rs386833393
NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys) rs139052578
NM_000179.3(MSH6):c.1618C>A (p.Leu540Ile) rs201996928
NM_000179.3(MSH6):c.3833C>G (p.Pro1278Arg) rs201191389
NM_000245.4(MET):c.2383A>G (p.Asn795Asp) rs200633053
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_000548.5(TSC2):c.922C>G (p.Arg308Gly) rs201144475
NM_007294.4(BRCA1):c.1849A>G (p.Thr617Ala) rs45564238

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