ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2839-10A>G

gnomAD frequency: 0.00001  dbSNP: rs770032309
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000981003 SCV001128966 likely benign Ataxia-telangiectasia syndrome 2023-06-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004588428 SCV005083721 likely benign Familial cancer of breast 2024-05-10 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
Natera, Inc. RCV000981003 SCV001461096 uncertain significance Ataxia-telangiectasia syndrome 2020-04-17 no assertion criteria provided clinical testing

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