ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.139C>T (p.His47Tyr) (rs35669569)

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
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171775 SCV000050792 benign not specified 2013-06-24 criteria provided, single submitter research
Invitae RCV000204404 SCV000261484 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000254067 SCV000318648 benign Cardiovascular phenotype 2015-06-29 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000407417 SCV000470193 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000624948 SCV000602458 benign Long QT syndrome 11 2019-03-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624948 SCV000743170 benign Long QT syndrome 11 2016-05-11 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000853010 SCV000995766 benign Atrial fibrillation; Cardiomyopathy; Heart failure; Hypertrophic cardiomyopathy 2019-05-21 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.