ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2839-1_2839del

dbSNP: rs2135547229
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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 RCV001390768 SCV001592605 pathogenic Ataxia-telangiectasia syndrome 2021-07-14 criteria provided, single submitter clinical testing

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