ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=) (rs199603690)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664649 SCV000788649 uncertain significance Alstrom syndrome 2017-01-31 criteria provided, single submitter clinical testing
Invitae RCV000664649 SCV001013258 likely benign Alstrom syndrome 2020-12-02 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000664649 SCV001781464 uncertain significance Alstrom syndrome 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001576145 SCV001803274 likely benign not provided 2018-11-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000664649 SCV001455033 likely benign Alstrom syndrome 2020-09-16 no assertion criteria provided 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.