Submissions for variant NM_005751.5(AKAP9):c.10197T>C (p.Thr3399=)

gnomAD frequency: 0.00148  dbSNP: rs143627839

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001088242	SCV000252807	benign	Long QT syndrome	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000243061	SCV000319052	likely benign	Cardiovascular phenotype	2016-02-17	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	RCV000198485	SCV001155129	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	AKAP9: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000128	SCV001156571	likely benign	Long QT syndrome 11	2019-08-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000198485	SCV001870810	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001000128	SCV002524877	benign	Long QT syndrome 11	2021-12-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001699001	SCV005040460	benign	not specified	2024-03-03	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699001	SCV001922367	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001699001	SCV001954986	benign	not specified		no assertion criteria provided	clinical testing