ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6007-44G>A

gnomAD frequency: 0.00300  dbSNP: rs185700860
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001593831 SCV001817028 likely benign not provided 2018-06-21 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225867 SCV002504742 likely benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001724374 SCV005089803 benign not specified 2024-07-31 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV001593831 SCV001905779 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724374 SCV001955651 benign not specified no assertion criteria provided clinical testing

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