Submissions for variant NM_016373.4(WWOX):c.1134C>T (p.Asn378=)

gnomAD frequency: 0.00274  dbSNP: rs201088847

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000443836	SCV000523407	benign	not specified	2018-02-02	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	RCV000526819	SCV000652337	benign	Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12	2025-01-23	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000602793	SCV000745167	likely benign	Malignant tumor of esophagus	2017-06-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000443836	SCV002066734	benign	not specified	2017-08-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244895	SCV002513934	benign	Developmental and epileptic encephalopathy, 28	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244894	SCV002513935	benign	Autosomal recessive spinocerebellar ataxia 12	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502527	SCV002812491	likely benign	Malignant tumor of esophagus; Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encephalopathy, 28	2021-10-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003333985	SCV004041973	likely benign	not provided	2024-12-01	criteria provided, single submitter	clinical testing	WWOX: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV003333985	SCV005219215	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000602793	SCV000733518	benign	Malignant tumor of esophagus		no assertion criteria provided	clinical testing