ClinVar Miner

Variants with conflicting interpretations "benign" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "uncertain significance" from Quest Diagnostics Nichols Institute San Juan Capistrano

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: 39
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933 0.00240
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00126
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys) rs142257684 0.00054
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500 0.00050
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_000548.5(TSC2):c.2743-3C>A rs45517264 0.00033
NM_000368.5(TSC1):c.615T>C (p.Ser205=) rs118203414 0.00023
NM_001370259.2(MEN1):c.-6G>A rs768088337 0.00023
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_000038.6(APC):c.6525A>G (p.Thr2175=) rs200151646 0.00009
NM_002691.4(POLD1):c.2388+5G>A rs750085275 0.00009
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) rs377626805 0.00009
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256 0.00009
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg) rs80358730 0.00008
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000251.3(MSH2):c.499G>C (p.Asp167His) rs63750255 0.00006
NM_007194.4(CHEK2):c.1260-10C>G rs730881706 0.00006
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_000179.3(MSH6):c.-8C>T rs565211544 0.00003
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile) rs549467183 0.00003
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=) rs587780841 0.00003
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114 0.00002
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480 0.00002
NM_000059.4(BRCA2):c.2698A>G (p.Asn900Asp) rs55736268 0.00001
NM_000059.4(BRCA2):c.9581C>A (p.Pro3194Gln) rs28897760 0.00001
NM_020975.6(RET):c.2538C>T (p.Leu846=) rs201816539 0.00001
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met) rs431825362
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn) rs201864483
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000517.6(HBA2):c.301-24delinsCTCGGCCC rs1596570272
NM_000535.7(PMS2):c.2007-6C>G rs376018314

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