ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.147-10T>G

gnomAD frequency: 0.00001  dbSNP: rs1168103303
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002134298 SCV002456378 likely benign Familial focal epilepsy with variable foci 2024-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003916311 SCV004735546 likely benign DEPDC5-related disorder 2021-02-17 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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