ClinVar Miner

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

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Total variants with conflicting interpretations: 23
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HGVS dbSNP gnomAD frequency
NM_002354.3(EPCAM):c.492-5T>C rs78608315 0.02826
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02183
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_001365951.3(KIF1B):c.3635C>T (p.Pro1212Leu) rs141224290 0.00255
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_000245.4(MET):c.959C>T (p.Ala320Val) rs35776110 0.00045
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799

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