Submissions for variant NM_005751.5(AKAP9):c.5778C>T (p.Gly1926=)

gnomAD frequency: 0.40488  dbSNP: rs10236397

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123578	SCV000166917	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	RCV000123578	SCV000311258	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000249103	SCV000317559	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: 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	RCV000398917	SCV000470273	likely benign	Congenital long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000350194	SCV001000266	benign	Long QT syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000123578	SCV001361455	benign	not specified	2019-08-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000609379	SCV002524847	benign	Long QT syndrome 11	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004706548	SCV005220993	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000609379	SCV000734578	benign	Long QT syndrome 11		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000123578	SCV001920985	benign	not specified		no assertion criteria provided	clinical testing