ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) (rs62151609)

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
Eurofins NTD, LLC RCV000180332 SCV000232744 benign not specified 2014-11-19 criteria provided, single submitter clinical testing
Invitae RCV001079928 SCV000290094 benign Alstrom syndrome 2020-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000180332 SCV000528958 benign not specified 2017-11-20 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.
Athena Diagnostics Inc RCV000231099 SCV001143003 benign not provided 2019-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000180332 SCV001363238 benign not specified 2019-08-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000180332 SCV001365610 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Pro1820Pro in exon 8 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 2.93% (194/6614) of Finnish chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs62151609).
Natera, Inc. RCV001079928 SCV001463050 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.