Submissions for variant NM_016373.4(WWOX):c.835C>T (p.Arg279Cys)

gnomAD frequency: 0.00444  dbSNP: rs77314072

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	RCV000224551	SCV000280840	likely benign	not provided	2015-10-28	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000430448	SCV000524605	benign	not specified	2017-12-22	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	RCV001084200	SCV000561078	benign	Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000224551	SCV000844907	benign	not provided	2018-08-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243900	SCV002513917	benign	Developmental and epileptic encephalopathy, 28	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243899	SCV002513918	benign	Autosomal recessive spinocerebellar ataxia 12	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224551	SCV004699898	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	WWOX: BP4, BS1, BS2