Submissions for variant NM_005751.5(AKAP9):c.9145C>T (p.Leu3049=)

gnomAD frequency: 0.33792  dbSNP: rs28927678

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123588	SCV000166927	benign	not specified	2011-07-10	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences	RCV000123588	SCV000311264	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000249606	SCV000317562	benign	Cardiovascular phenotype	2015-06-18	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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	RCV000310199	SCV000470314	likely benign	Congenital long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000123588	SCV000538269	benign	not specified	2016-04-25	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 4626/13006=35%
Invitae	RCV000344070	SCV001000270	benign	Long QT syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000123588	SCV001361454	benign	not specified	2019-08-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000605705	SCV002524873	benign	Long QT syndrome 11	2021-12-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000605705	SCV000734583	benign	Long QT syndrome 11		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000123588	SCV001919197	benign	not specified		no assertion criteria provided	clinical testing