ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.1218-5del

dbSNP: rs758572377
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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 RCV001514910 SCV001722872 benign Familial focal epilepsy with variable foci 2023-09-10 criteria provided, single submitter clinical testing
GeneDx RCV001692406 SCV001911677 benign not provided 2020-09-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948520 SCV004758881 likely benign DEPDC5-related disorder 2019-02-24 criteria provided, single submitter 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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