ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His)

gnomAD frequency: 0.00158  dbSNP: rs141856443
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
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 RCV000171734 SCV000055249 likely benign not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV000248078 SCV000319039 likely benign Cardiovascular phenotype 2019-02-03 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Invitae RCV001085477 SCV000563320 benign Long QT syndrome 2024-01-24 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000853027 SCV000995784 benign Primary dilated cardiomyopathy; Amyloidosis 2018-10-30 criteria provided, single submitter clinical testing
GeneDx RCV000171734 SCV001915444 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253263 SCV002524891 benign Long QT syndrome 11 2021-12-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001699217 SCV004242116 likely benign not specified 2023-12-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699217 SCV001925578 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699217 SCV001952663 benign not specified 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.