ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.3805+10G>A

gnomAD frequency: 0.00041  dbSNP: rs201608608
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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 RCV000469095 SCV000558201 likely benign Familial focal epilepsy with variable foci 2024-10-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960067 SCV004780989 likely benign DEPDC5-related disorder 2021-02-22 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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