ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.1389G>T (p.Met463Ile) (rs6964587)

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 RCV000171778 SCV000050789 benign Colorectal cancer 2013-06-24 criteria provided, single submitter research
GeneDx RCV000123592 SCV000166931 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000123592 SCV000232692 benign not specified 2015-05-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000123592 SCV000311253 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000244317 SCV000317558 benign Cardiovascular phenotype 2015-03-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: 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 RCV000350947 SCV000470209 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000123592 SCV000538267 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 5727/13002=44%
Invitae RCV000860277 SCV001000263 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000602690 SCV000734574 benign Long QT syndrome 11 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.