ClinVar Miner

Submissions for variant NM_147185.3(AKAP9):c.4004_4006dup (p.Leu1336_Glu1337insGln) (rs10644111)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
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 RCV000170635 SCV000050787 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000170635 SCV000223187 benign not specified 2016-09-30 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 RCV000170635 SCV000226119 benign not specified 2015-06-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000170635 SCV000311256 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000248835 SCV000317529 benign Cardiovascular phenotype 2012-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248835 SCV000317648 benign Cardiovascular phenotype 2012-09-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374712 SCV000470244 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280223 SCV000470245 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000170635 SCV000538268 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 dbSNP (all): 865/2184=40%
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845418 SCV000987488 benign not provided criteria provided, single submitter clinical testing
Invitae RCV000845418 SCV001000265 benign not provided 2019-03-06 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.