ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.73-14C>G

gnomAD frequency: 0.00001  dbSNP: rs766284348
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189385 SCV001356659 likely benign Hereditary cancer-predisposing syndrome 2018-11-29 criteria provided, single submitter clinical testing
Invitae RCV002069070 SCV002395492 likely benign Ataxia-telangiectasia syndrome 2024-02-01 criteria provided, single submitter clinical testing

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