ClinVar Miner

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

gnomAD frequency: 0.32616  dbSNP: rs197922
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Total submissions: 13
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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 Inc 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: 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
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

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