ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6117A>G (p.Glu2039=)

dbSNP: rs2136127840
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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 RCV001439672 SCV001642564 likely benign Ataxia-telangiectasia syndrome 2019-09-23 criteria provided, single submitter clinical testing

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