Submissions for variant NM_016373.4(WWOX):c.606-17G>A

gnomAD frequency: 0.24208  dbSNP: rs4130513

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248269	SCV000312708	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000248269	SCV000519734	benign	not specified	2016-01-12	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	RCV001511254	SCV001718464	benign	Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244647	SCV002513898	benign	Developmental and epileptic encephalopathy, 28	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244646	SCV002513899	benign	Autosomal recessive spinocerebellar ataxia 12	2021-12-05	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000248269	SCV005087999	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 23% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 21. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV004709466	SCV005253995	benign	not provided		criteria provided, single submitter	not provided