ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.496+20G>C

gnomAD frequency: 0.00003  dbSNP: rs751245102
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584579 SCV000687587 likely benign Hereditary cancer-predisposing syndrome 2016-11-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679125 SCV000805574 likely benign not provided 2017-07-20 criteria provided, single submitter clinical testing
GeneDx RCV000679125 SCV001939416 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060606 SCV002381320 likely benign Ataxia-telangiectasia syndrome 2023-12-19 criteria provided, single submitter clinical testing

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