ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.5175A>G (p.Gln1725=)

gnomAD frequency: 0.20759  dbSNP: rs441800
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081374 SCV000113305 benign not specified 2013-09-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289848 SCV000474201 benign Retinitis pigmentosa 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001519929 SCV001728895 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001519929 SCV001834351 benign not provided 2019-11-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795145 SCV002033687 benign Retinitis pigmentosa 1 2021-11-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000081374 SCV001742713 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000081374 SCV001959434 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.