ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4776+41C>T

gnomAD frequency: 0.00726  dbSNP: rs114726455
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001714504 SCV001945526 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225930 SCV002504720 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465901 SCV002760574 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001714504 SCV005229287 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001827587 SCV002075298 benign Ataxia-telangiectasia syndrome 2019-10-18 no assertion criteria provided clinical testing

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