Submissions for variant NM_016373.4(WWOX):c.351C>G (p.Leu117=)

gnomAD frequency: 0.01231  dbSNP: rs34944716

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082190	SCV000290221	benign	Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000420306	SCV000522815	benign	not specified	2016-02-22	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.
Athena Diagnostics	RCV000714208	SCV000844897	benign	not provided	2017-09-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243915	SCV002513881	benign	Developmental and epileptic encephalopathy, 28	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243914	SCV002513882	benign	Autosomal recessive spinocerebellar ataxia 12	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000714208	SCV005251904	benign	not provided		criteria provided, single submitter	not provided