ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5422_5425del (p.His1808fs)

dbSNP: rs1671951264
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Diseases Lab, University of Vigo RCV001293388 SCV001481969 pathogenic Alstrom syndrome 2021-02-09 no assertion criteria provided research The patient is homozygous for this mutation and has the disease.

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.