Submissions for variant NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu)

gnomAD frequency: 0.00258  dbSNP: rs11558704

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000653310	SCV000775189	benign	Epilepsy, familial focal, with variable foci 3	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001637113	SCV001851594	benign	not provided	2019-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001637113	SCV002497829	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	NPRL3: BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000653310	SCV004564651	likely benign	Epilepsy, familial focal, with variable foci 3	2023-10-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965411	SCV004783121	benign	NPRL3-related condition	2019-12-23	criteria provided, single submitter	clinical testing	This variant is classified as 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	RCV001637113	SCV001928410	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001637113	SCV001969272	likely benign	not provided		no assertion criteria provided	clinical testing