ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6864C>G (p.Val2288=)

dbSNP: rs2136334108
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001506403 SCV001711325 likely benign Ataxia-telangiectasia syndrome 2019-07-23 criteria provided, single submitter clinical testing

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