ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter) (rs192496253)

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
Counsyl RCV000668094 SCV000792642 uncertain significance Alstrom syndrome 2017-07-06 criteria provided, single submitter clinical testing
GeneDx RCV001584538 SCV001819984 uncertain significance not provided 2020-12-08 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation as the last 21 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge

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.