ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "benign" 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: 13
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_000051.4(ATM):c.7928-10T>C rs188404773 0.00079
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000251.3(MSH2):c.1387-4G>C rs376796243 0.00011
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000077.5(CDKN2A):c.459C>T (p.Asp153=) rs778871932 0.00002
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys) rs372838203 0.00001
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) rs33918131
NM_000518.5(HBB):c.*56A>G rs537944366
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542
NM_174936.4(PCSK9):c.522C>T (p.Pro174=) rs373018373

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