Submissions for variant NM_016373.4(WWOX):c.605+9T>A

gnomAD frequency: 0.00069  dbSNP: rs368853054

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083274	SCV000290223	likely benign	Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12	2025-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000435192	SCV000525015	likely benign	not specified	2017-07-31	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.
Genetic Services Laboratory, University of Chicago	RCV000435192	SCV000597994	likely benign	not specified	2016-08-19	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000714213	SCV000844903	likely benign	not provided	2018-05-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003939880	SCV004748826	likely benign	WWOX-related disorder	2019-06-07	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).