ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter)

dbSNP: rs1592726020
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
Baylor Genetics RCV003467319 SCV004216752 pathogenic Bardet-Biedl syndrome 14 2022-04-29 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787561 SCV000926537 likely pathogenic Leber congenital amaurosis 2018-04-01 no assertion criteria provided research

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.