ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.568C>T (p.Pro190Ser)

gnomAD frequency: 0.00004  dbSNP: rs151169551
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658253 SCV000780024 uncertain significance not provided 2022-08-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously reported as a pathogenic or benign germline variant to our knowledge; This variant is associated with the following publications: (PMID: 29170503)
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817851 SCV005068860 uncertain significance Retinal dystrophy 2022-01-01 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.