ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.10107T>C (p.Tyr3369=)

gnomAD frequency: 0.00002  dbSNP: rs376961682
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000289614 SCV000470331 uncertain significance Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001506175 SCV001711091 likely benign Long QT syndrome 2022-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446614 SCV002753529 likely benign Cardiovascular phenotype 2019-08-27 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.
CeGaT Center for Human Genetics Tuebingen RCV003437129 SCV004164295 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing AKAP9: BP4, BP7

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.