ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2125-7_2125-3del

dbSNP: rs1060504272
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474738 SCV000558322 likely benign Ataxia-telangiectasia syndrome 2024-01-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580433 SCV000682028 likely benign Hereditary cancer-predisposing syndrome 2017-05-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000580433 SCV002534144 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-16 criteria provided, single submitter curation

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