Submissions for variant NM_001077350.3(NPRL3):c.442C>T (p.Arg148Cys)

gnomAD frequency: 0.00029  dbSNP: rs201069648

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001036691	SCV001200068	likely benign	Epilepsy, familial focal, with variable foci 3	2025-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001664630	SCV001874763	likely benign	not provided	2021-01-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001664630	SCV002585526	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	NPRL3: BP5
Ambry Genetics	RCV003339433	SCV004059819	likely benign	Inborn genetic diseases	2023-06-28	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.
Mayo Clinic Laboratories, Mayo Clinic	RCV001664630	SCV004227485	uncertain significance	not provided	2023-05-10	criteria provided, single submitter	clinical testing	BS2