ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5006-12T>G

dbSNP: rs2083315314
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002082765 SCV002322781 likely benign Ataxia-telangiectasia syndrome 2023-12-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258361 SCV002527801 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-25 criteria provided, single submitter curation
GeneDx RCV003317574 SCV004021616 uncertain significance not provided 2023-07-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV003471291 SCV004212078 uncertain significance Familial cancer of breast 2023-03-01 criteria provided, single submitter clinical testing

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