ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.4194C>T (p.Leu1398=)

dbSNP: rs1449562400
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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 RCV001946373 SCV002212063 likely benign Familial focal epilepsy with variable foci 2024-09-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331483 SCV002626642 likely benign Inborn genetic diseases 2017-07-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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