ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.2832C>T (p.Thr944=)

dbSNP: rs771577027
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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 RCV001484371 SCV001688789 likely benign Familial focal epilepsy with variable foci 2020-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002439159 SCV002750436 likely benign Inborn genetic diseases 2020-03-22 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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