Submissions for variant NM_016373.4(WWOX):c.876T>C (p.Ala292=)

dbSNP: rs74030232

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000434624	SCV000522799	benign	not specified	2016-11-28	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000476648	SCV000561071	benign	Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12	2024-01-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244890	SCV002513921	benign	Developmental and epileptic encephalopathy, 28	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244889	SCV002513922	benign	Autosomal recessive spinocerebellar ataxia 12	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003311809	SCV004010513	benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	WWOX: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV003311809	SCV005254513	benign	not provided		criteria provided, single submitter	not provided