ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5347C>T (p.Leu1783=)

gnomAD frequency: 0.00011  dbSNP: rs562434013
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 RCV000666336 SCV000790611 likely benign Alstrom syndrome 2017-03-31 criteria provided, single submitter clinical testing
Invitae RCV000666336 SCV001091821 likely benign Alstrom syndrome 2024-01-09 criteria provided, single submitter clinical testing
GeneDx RCV001706701 SCV001815442 likely benign not provided 2020-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343416 SCV002646345 likely benign Cardiovascular phenotype 2021-02-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV000666336 SCV002813041 likely benign Alstrom syndrome 2022-03-14 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.