ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3402+70A>G

gnomAD frequency: 0.01120  dbSNP: rs3218671
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000835388 SCV000977179 likely benign not provided 2018-06-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225746 SCV002504695 likely benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000835388 SCV005216401 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001830852 SCV002080352 benign Ataxia-telangiectasia syndrome 2019-10-18 no assertion criteria provided clinical testing

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