ClinVar Miner

Submissions for variant NM_001252024.2(TRPM1):c.1623+1G>A

dbSNP: rs2033825467
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
Institute of Human Genetics, University of Leipzig Medical Center RCV001255343 SCV001431673 likely pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.1557+1G>A, p.? was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was M DNV.The variants does not (fully) explain the NDD in this individual
Institute of Human Genetics, University of Leipzig Medical Center RCV001262194 SCV001439979 likely pathogenic Congenital stationary night blindness 1C 2019-01-01 criteria provided, single submitter 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.