ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5762+27G>A

gnomAD frequency: 0.00428  dbSNP: rs3218686
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665423 SCV001872847 likely benign not provided 2021-02-18 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225902 SCV002504739 likely benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001694149 SCV002760593 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV001694149 SCV001906308 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001694149 SCV001954880 benign not specified no assertion criteria provided clinical testing

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