ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3993+40G>A

gnomAD frequency: 0.00933  dbSNP: rs3218709
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000829441 SCV000971171 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001692289 SCV002760562 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000829441 SCV005216456 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV001692289 SCV001905894 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001692289 SCV001958944 benign not specified no assertion criteria provided clinical testing

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