Submissions for variant NM_001242896.3(DEPDC5):c.363+6_363+7del

gnomAD frequency: 0.00027  dbSNP: rs748242785

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000533145	SCV000642191	likely benign	Familial focal epilepsy with variable foci	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001200451	SCV001371421	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	DEPDC5: BS1
GeneDx	RCV001200451	SCV001837970	benign	not provided	2019-05-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002456135	SCV002614168	likely benign	Inborn genetic diseases	2022-06-15	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001200451	SCV001928041	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001200451	SCV001967916	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935460	SCV004750337	likely benign	DEPDC5-related disorder	2020-09-08	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).