Submissions for variant NM_016373.4(WWOX):c.754C>G (p.Pro252Ala)

gnomAD frequency: 0.00684  dbSNP: rs75559202

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000435836	SCV000519937	benign	not specified	2016-01-18	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	RCV000460829	SCV000561066	benign	Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000435836	SCV000616299	benign	not specified	2017-07-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244885	SCV002513911	benign	Developmental and epileptic encephalopathy, 28	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244884	SCV002513912	benign	Autosomal recessive spinocerebellar ataxia 12	2021-12-05	criteria provided, single submitter	clinical testing
Bioinformatics Core, Luxembourg Center for Systems Biomedicine	RCV000656054	SCV000588330	pathogenic	Childhood epilepsy with centrotemporal spikes	2017-01-01	no assertion criteria provided	case-control	CAADphred>15
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001796043	SCV002033982	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001796043	SCV002036814	likely benign	not provided		no assertion criteria provided	clinical testing