Submissions for variant NM_016373.4(WWOX):c.1238C>A (p.Ser413Tyr)

gnomAD frequency: 0.01316  dbSNP: rs117065412

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000234375	SCV000290218	benign	Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000427849	SCV000520477	benign	not specified	2016-01-14	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	RCV000714206	SCV000844895	benign	not provided	2017-10-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000714206	SCV002497938	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	WWOX: BP4, BS1, BS2
Genome-Nilou Lab	RCV002243909	SCV002513941	benign	Developmental and epileptic encephalopathy, 28	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243908	SCV002513942	benign	Autosomal recessive spinocerebellar ataxia 12	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000714206	SCV005254602	benign	not provided		criteria provided, single submitter	not provided