ClinVar Miner

Variants with conflicting interpretations "benign" from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ and "likely benign" from Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute

Minimum review status of the submission from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+: Collection method of the submission from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_000051.4(ATM):c.6348-54T>C rs116924981 0.00493
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_000051.4(ATM):c.6007-44G>A rs185700860 0.00300
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687 0.00138
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_007294.4(BRCA1):c.5278-14C>G rs80358105 0.00006
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927 0.00001

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