ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn) (rs3820700)

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
GeneDx RCV000423904 SCV000524321 benign not specified 2016-09-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000423904 SCV000711874 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Ser2574Asn in exon 10 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 21.64% (1866/8622) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs3820700).
Invitae RCV000860049 SCV000999964 benign Alstrom syndrome 2020-12-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000860049 SCV001769060 benign Alstrom syndrome 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000860049 SCV001463063 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.