ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6198+130G>A

dbSNP: rs55982799
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000836107 SCV000977937 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.
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV001692291 SCV001905872 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001692291 SCV001956909 benign not specified no assertion criteria provided clinical testing

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