ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7434A>G (p.Glu2478=)

dbSNP: rs1555123171
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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 RCV000628257 SCV000749152 likely benign Ataxia-telangiectasia syndrome 2017-10-04 criteria provided, single submitter clinical testing

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