Submissions for variant NM_016373.4(WWOX):c.646C>G (p.Leu216Val)

gnomAD frequency: 0.03724  dbSNP: rs7201683

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244851	SCV000312710	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000244851	SCV000519834	benign	not specified	2016-01-19	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	RCV000473650	SCV000561068	benign	Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000244851	SCV000616298	benign	not specified	2017-06-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244651	SCV002513905	benign	Developmental and epileptic encephalopathy, 28	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244650	SCV002513906	benign	Autosomal recessive spinocerebellar ataxia 12	2021-12-05	criteria provided, single submitter	clinical testing