Submissions for variant NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr)

gnomAD frequency: 0.00061  dbSNP: rs140470576

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000170637	SCV000055238	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Invitae	RCV000233623	SCV000289079	benign	Long QT syndrome	2024-01-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000351603	SCV000470332	uncertain significance	Congenital long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617996	SCV000735151	likely benign	Cardiovascular phenotype	2019-04-01	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000624955	SCV000743177	likely benign	Long QT syndrome 11	2016-12-16	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000624955	SCV000884991	likely benign	Long QT syndrome 11	2023-10-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002469041	SCV002766310	likely benign	not specified	2022-11-06	criteria provided, single submitter	clinical testing
Dept of Medical Biology, Uskudar University	RCV000233623	SCV004022072	uncertain significance	Long QT syndrome	2024-01-08	criteria provided, single submitter	research	Criteria: BS1
CeGaT Center for Human Genetics Tuebingen	RCV000170637	SCV004164296	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	AKAP9: BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000170637	SCV001799496	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000170637	SCV001924721	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000170637	SCV001973126	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000170637	SCV001979355	likely benign	not provided		no assertion criteria provided	clinical testing