ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8418+78A>G

gnomAD frequency: 0.03255  dbSNP: rs11824991
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001651679 SCV001862087 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 RCV002225891 SCV002504779 likely benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651679 SCV005219120 likely benign not provided criteria provided, single submitter not provided

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