ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2124+12del

dbSNP: rs769051992
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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 RCV002122956 SCV002401316 benign Ataxia-telangiectasia syndrome 2023-09-03 criteria provided, single submitter clinical testing

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