ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.3630G>A (p.Val1210=)

dbSNP: rs2149256621
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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 RCV001480872 SCV001685202 likely benign Familial focal epilepsy with variable foci 2024-07-03 criteria provided, single submitter clinical testing
GeneDx RCV001797180 SCV002038964 uncertain significance not provided 2021-06-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 27535533)

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