ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8721T>C (p.Ser2907=) (rs1386201636)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000975811 SCV001123702 likely benign not provided 2018-10-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193870 SCV001363024 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Invitae RCV001439124 SCV001642008 likely benign Alstrom syndrome 2018-10-11 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.