ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.1095T>C (p.Asp365=)

gnomAD frequency: 0.02578  dbSNP: rs79070552
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244664 SCV000307085 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000462124 SCV000558183 benign Familial focal epilepsy with variable foci 2025-02-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711426 SCV000841791 benign not provided 2018-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311366 SCV000846968 benign Inborn genetic diseases 2016-03-02 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.
GeneDx RCV000711426 SCV001884674 benign not provided 2019-07-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711426 SCV005275461 benign not provided criteria provided, single submitter not provided

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