Submissions for variant NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser)

gnomAD frequency: 0.33817  dbSNP: rs6960867

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000123585	SCV000050795	benign	not specified	2013-06-24	criteria provided, single submitter	research
GeneDx	RCV000123585	SCV000166924	benign	not specified	2011-08-08	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	RCV000123585	SCV000311261	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000252649	SCV000317560	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	RCV000261848	SCV000470305	likely benign	Congenital long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000386806	SCV001000268	benign	Long QT syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000123585	SCV001361191	likely benign	not specified	2020-08-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000606154	SCV002524864	benign	Long QT syndrome 11	2021-12-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000606154	SCV000734580	benign	Long QT syndrome 11		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000123585	SCV001921035	benign	not specified		no assertion criteria provided	clinical testing