ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Vantari Genetics and "likely benign" from any submitter

Minimum review status of the submission from Vantari Genetics: Collection method of the submission from Vantari Genetics:
Minimum review status of the other submission: Collection method of the other submission:
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Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00179
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706 0.00079
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_000245.4(MET):c.1771C>T (p.Arg591Trp) rs45602940 0.00015
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793 0.00005
NM_000059.4(BRCA2):c.3479G>A (p.Arg1160Lys) rs183920365 0.00002
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531

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