ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3942A>C (p.Ser1314=) (rs186449817)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080877 SCV000290084 likely benign Alstrom syndrome 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000225835 SCV000535489 likely benign not provided 2020-12-30 criteria provided, single submitter clinical testing
Eurofins NTD, LLC RCV000439387 SCV000859129 likely benign not specified 2018-01-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000225835 SCV001152350 likely benign not provided 2019-04-01 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000439387 SCV001924452 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000439387 SCV001927524 benign not specified 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.