ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1235+20T>G

gnomAD frequency: 0.00002  dbSNP: rs762656752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000771770 SCV000904439 likely benign Hereditary cancer-predisposing syndrome 2018-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067238 SCV002334763 likely benign Ataxia-telangiectasia syndrome 2025-01-22 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493721 SCV004243407 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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