Submissions for variant NM_016373.4(WWOX):c.941G>A (p.Arg314His)

gnomAD frequency: 0.03269  dbSNP: rs73572838

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242986	SCV000312712	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000242986	SCV000519947	benign	not specified	2016-01-07	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	RCV001082703	SCV000561084	benign	Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000714217	SCV000844910	benign	not provided	2017-09-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244655	SCV002513928	benign	Developmental and epileptic encephalopathy, 28	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244654	SCV002513929	benign	Autosomal recessive spinocerebellar ataxia 12	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000714217	SCV005254535	benign	not provided		criteria provided, single submitter	not provided