Submissions for variant NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys)

gnomAD frequency: 0.00142  dbSNP: rs61757671

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000171720	SCV000050738	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Eurofins Ntd Llc (ga)	RCV000171720	SCV000228238	uncertain significance	not provided	2015-01-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000252240	SCV000319967	likely benign	Cardiovascular phenotype	2018-09-26	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	RCV000267059	SCV000470279	uncertain significance	Congenital long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000361700	SCV000563315	likely benign	Long QT syndrome	2024-01-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000999737	SCV000883382	likely benign	Long QT syndrome 11	2018-07-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000171720	SCV001787528	likely benign	not provided	2018-11-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28973083)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001797656	SCV002041694	likely benign	not specified	2021-11-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003982921	SCV004796504	likely benign	AKAP9-related disorder	2019-05-03	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV000171720	SCV001923240	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000171720	SCV001931794	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000171720	SCV001958000	likely benign	not provided		no assertion criteria provided	clinical testing