ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.-30-5dup

dbSNP: rs745673370
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001639027 SCV001848353 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255685 SCV002535300 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-20 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV004551955 SCV004772402 likely benign ATM-related disorder 2019-04-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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