ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met)

gnomAD frequency: 0.02014  dbSNP: rs41312104
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078650 SCV000110506 benign not specified 2013-10-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000078650 SCV000269756 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Thr533Met in exon 14 of RPGR: This variant is not expected to have clinical si gnificance because it has been identified in 2.9% (197/6728) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs41312104).
PreventionGenetics, part of Exact Sciences RCV000078650 SCV000303613 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000476587 SCV000557306 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000085069 SCV001159193 benign not provided 2023-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000085069 SCV001825373 likely benign not provided 2019-07-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000476587 SCV002706314 benign Primary ciliary dyskinesia 2014-12-26 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000078650 SCV004804408 likely benign not specified 2024-01-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000085069 SCV005209233 likely benign not provided criteria provided, single submitter not provided
Retina International RCV000085069 SCV000117206 not provided not provided no assertion provided not provided

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.