Submissions for variant NM_016373.4(WWOX):c.409+16A>C

dbSNP: rs12934985

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243843	SCV000312704	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000243843	SCV000519660	benign	not specified	2016-01-06	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	RCV001510046	SCV001716978	benign	Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244639	SCV002513885	benign	Developmental and epileptic encephalopathy, 28	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244638	SCV002513886	benign	Autosomal recessive spinocerebellar ataxia 12	2021-12-05	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000243843	SCV005087699	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 42% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 39. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV004709465	SCV005251915	benign	not provided		criteria provided, single submitter	not provided