ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3993+18A>G

gnomAD frequency: 0.00006  dbSNP: rs201171518
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581317 SCV000687507 likely benign Hereditary cancer-predisposing syndrome 2016-10-11 criteria provided, single submitter clinical testing
GeneDx RCV001672882 SCV001890984 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060597 SCV002389877 likely benign Ataxia-telangiectasia syndrome 2025-02-02 criteria provided, single submitter clinical testing

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