ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8584+6C>G

gnomAD frequency: 0.00001  dbSNP: rs863224300
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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 RCV000200137 SCV000252988 likely benign Ataxia-telangiectasia syndrome 2024-01-24 criteria provided, single submitter clinical testing
Counsyl RCV000200137 SCV000793236 uncertain significance Ataxia-telangiectasia syndrome 2017-08-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771942 SCV000904756 likely benign Hereditary cancer-predisposing syndrome 2017-12-18 criteria provided, single submitter clinical testing

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