ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7707T>C (p.Asp2569=)

gnomAD frequency: 0.00001  dbSNP: rs1183350500
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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 RCV001403830 SCV001605715 likely benign Ataxia-telangiectasia syndrome 2019-01-29 criteria provided, single submitter clinical testing

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