ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.9018T>C (p.Ala3006=)

dbSNP: rs2091236849
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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 RCV001191061 SCV001358732 likely benign Hereditary cancer-predisposing syndrome 2019-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001447200 SCV001650261 likely benign Ataxia-telangiectasia syndrome 2023-05-20 criteria provided, single submitter clinical testing

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