ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4612-12A>T

dbSNP: rs1326401118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988687 SCV001138506 benign Ataxia-telangiectasia syndrome 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000988687 SCV003211203 likely benign Ataxia-telangiectasia syndrome 2022-06-15 criteria provided, single submitter clinical testing

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