ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8010+19_8010+20del

gnomAD frequency: 0.00001  dbSNP: rs1325965934
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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 RCV002143397 SCV002453481 likely benign Ataxia-telangiectasia syndrome 2021-11-17 criteria provided, single submitter clinical testing

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