ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.72+16A>C

dbSNP: rs1565344289
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000777102 SCV000912788 likely benign Hereditary cancer-predisposing syndrome 2017-12-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005092299 SCV005747327 likely benign Ataxia-telangiectasia syndrome 2024-03-09 criteria provided, single submitter clinical testing

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