ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2125-68T>C

gnomAD frequency: 0.01573  dbSNP: rs2235008
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001561134 SCV001783673 likely benign not provided 2018-06-25 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225857 SCV002505194 likely benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001561134 SCV005215782 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV001694125 SCV001905865 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001694125 SCV001956465 benign not specified no assertion criteria provided clinical testing

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