Submissions for variant NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys)

gnomAD frequency: 0.32616  dbSNP: rs197922

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000117154	SCV000229032	benign	not specified	2014-07-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000117154	SCV000310062	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000276471	SCV000403687	benign	Progressive myoclonic epilepsy	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711830	SCV000842235	benign	not provided	2017-04-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312117	SCV000845983	benign	Inborn genetic diseases	2016-01-08	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mendelics	RCV000989942	SCV001140683	benign	Myoclonic epilepsy, progressive, X-linked	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV000276471	SCV001721732	benign	Progressive myoclonic epilepsy	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000711830	SCV001897741	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19057520)
Genome-Nilou Lab	RCV001701753	SCV001933883	benign	Progressive myoclonic epilepsy type 6	2021-08-10	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000117154	SCV005087629	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 51% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 47. Only high quality variants are reported.
Genetic Services Laboratory, University of Chicago	RCV000117154	SCV000151318	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000117154	SCV001931996	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000117154	SCV001959379	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000117154	SCV001973362	benign	not specified		no assertion criteria provided	clinical testing