ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.7451A>G (p.Lys2484Arg)

gnomAD frequency: 0.09968  dbSNP: rs35759833
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000123583 SCV000050791 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000123583 SCV000166922 benign not specified 2011-08-08 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.
PreventionGenetics, part of Exact Sciences RCV000123583 SCV000311260 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000251839 SCV000317414 benign Cardiovascular phenotype 2015-06-21 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Illumina Laboratory Services, Illumina RCV000306061 SCV000470294 likely benign Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000339876 SCV001000371 benign Long QT syndrome 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000123583 SCV001363541 likely benign not specified 2020-08-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253225 SCV002524859 benign Long QT syndrome 11 2021-12-05 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.