Submissions for variant NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly)

gnomAD frequency: 0.00070  dbSNP: rs73226383

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000171721	SCV000050733	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Labcorp Genetics (formerly Invitae), Labcorp	RCV000204021	SCV000261459	likely benign	Long QT syndrome	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000250867	SCV000318922	likely benign	Cardiovascular phenotype	2019-12-13	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.
Illumina Laboratory Services, Illumina	RCV000358502	SCV000470281	uncertain significance	Congenital long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV001256723	SCV001433129	likely benign	not specified	2020-03-24	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001333446	SCV001526018	uncertain significance	Long QT syndrome 11	2018-04-25	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen	RCV000171721	SCV004164289	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	AKAP9: BS1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001256723	SCV005076011	likely benign	not specified	2024-04-29	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000171721	SCV001925729	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000171721	SCV001931565	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000171721	SCV001979760	likely benign	not provided		no assertion criteria provided	clinical testing