ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.2139A>G (p.Leu713=)

gnomAD frequency: 0.00675  dbSNP: rs16989536
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000471936 SCV000558207 benign Familial focal epilepsy with variable foci 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313208 SCV000847473 benign Inborn genetic diseases 2016-08-04 criteria provided, single submitter clinical testing This alteration is classified as 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.
Athena Diagnostics RCV001288147 SCV001475066 benign not specified 2024-06-06 criteria provided, single submitter clinical testing
GeneDx RCV001584183 SCV001811313 likely benign not provided 2020-11-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001584183 SCV005210348 likely benign not provided criteria provided, single submitter not provided

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