ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6807+20A>G

gnomAD frequency: 0.00003  dbSNP: rs369001797
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616844 SCV000722557 likely benign not specified 2017-09-01 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.
Color Diagnostics, LLC DBA Color Health RCV000771928 SCV000904720 likely benign Hereditary cancer-predisposing syndrome 2018-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001422857 SCV001625416 likely benign Ataxia-telangiectasia syndrome 2024-12-11 criteria provided, single submitter clinical testing

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