Submissions for variant NM_001242896.3(DEPDC5):c.3567A>G (p.Thr1189=)

gnomAD frequency: 0.00063  dbSNP: rs142197878

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000465710	SCV000558212	benign	Familial focal epilepsy with variable foci	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313210	SCV000848996	likely benign	Inborn genetic diseases	2017-02-03	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.
GeneDx	RCV001653844	SCV001867483	benign	not provided	2018-10-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001653844	SCV002496735	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	DEPDC5: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences	RCV003960068	SCV004771780	likely benign	DEPDC5-related disorder	2021-05-03	criteria provided, single submitter	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001653844	SCV001931194	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001653844	SCV001967380	likely benign	not provided		no assertion criteria provided	clinical testing