ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6348-54T>C

gnomAD frequency: 0.00493  dbSNP: rs116924981
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000835384 SCV000977175 likely benign not provided 2018-06-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Breakthrough Genomics, Breakthrough Genomics RCV000835384 SCV005218558 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000835384 SCV001906315 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724171 SCV001957845 benign not specified no assertion criteria provided clinical testing

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