ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Preventiongenetics, part of Exact Sciences and "uncertain significance" from any submitter

Minimum review status of the submission from Preventiongenetics, part of Exact Sciences: Collection method of the submission from Preventiongenetics, part of Exact Sciences:
Minimum review status of the other submission: Collection method of the other submission:
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Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro) rs139236922 0.00064
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His) rs146179135 0.00022
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser) rs201118107 0.00014
NM_003000.3(SDHB):c.403G>A (p.Val135Met) rs201585157 0.00012
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) rs145444830 0.00007
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met) rs200140994 0.00006
NM_000038.6(APC):c.2438A>G (p.Asn813Ser) rs201522866 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_000222.3(KIT):c.839C>T (p.Ala280Val) rs386833402 0.00004
NM_000245.4(MET):c.1019A>G (p.Asp340Gly) rs200690492 0.00004
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_004329.3(BMPR1A):c.1596C>G (p.Ile532Met) rs201345248 0.00003

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