Submissions for variant NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys)

gnomAD frequency: 0.00083  dbSNP: rs200461412

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224270	SCV000280747	likely benign	not provided	2016-05-03	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000437104	SCV000524637	benign	not specified	2016-06-06	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV001081219	SCV000561076	benign	Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12	2024-01-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000437104	SCV000597999	benign	not specified	2017-05-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243898	SCV002513937	benign	Developmental and epileptic encephalopathy, 28	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243897	SCV002513938	benign	Autosomal recessive spinocerebellar ataxia 12	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224270	SCV004033502	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	WWOX: BS2