Submissions for variant NM_001242896.3(DEPDC5):c.2135C>T (p.Ser712Phe)

gnomAD frequency: 0.02277  dbSNP: rs16989535

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000467524	SCV000558198	benign	Familial focal epilepsy with variable foci	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311789	SCV000846391	benign	Inborn genetic diseases	2016-02-24	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	RCV001683513	SCV001899154	benign	not provided	2018-07-27	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001683513	SCV005275482	benign	not provided		criteria provided, single submitter	not provided
Athena Diagnostics	RCV004999496	SCV005620866	benign	not specified	2024-02-01	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005365339	SCV005912817	benign	Focal epilepsy	2023-04-03	criteria provided, single submitter	research
Bioinformatics Core, Luxembourg Center for Systems Biomedicine	RCV000656071	SCV000588347	pathogenic	Self-limited epilepsy with centrotemporal spikes	2017-01-01	no assertion criteria provided	case-control	CAADphred>15