ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe) (rs192499639)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233652 SCV000290086 likely benign Alstrom syndrome 2020-12-07 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000233652 SCV000679926 uncertain significance Alstrom syndrome 2017-08-01 criteria provided, single submitter clinical testing
GeneDx RCV001706267 SCV000732547 likely benign not provided 2020-04-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000233652 SCV001463044 likely benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV001706267 SCV001922336 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001706267 SCV001969789 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001706267 SCV002034307 likely benign not provided 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.