ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8088A>G (p.Val2696=)

dbSNP: rs2136659987
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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 RCV001451493 SCV001655122 likely benign Ataxia-telangiectasia syndrome 2020-10-27 criteria provided, single submitter clinical testing

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