ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3993+48A>G

gnomAD frequency: 0.00736  dbSNP: rs3218712
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707918 SCV001936447 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001694172 SCV002760563 benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001707918 SCV005231017 benign not provided criteria provided, single submitter not provided
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV001694172 SCV001906020 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001694172 SCV001956879 benign not specified no assertion criteria provided clinical testing

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