Submissions for variant NM_005751.5(AKAP9):c.7221A>G (p.Glu2407=)

gnomAD frequency: 0.00006  dbSNP: rs779280501

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000617535	SCV000737452	likely benign	Cardiovascular phenotype	2015-10-22	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514829	SCV001722769	benign	Long QT syndrome	2022-08-16	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253505	SCV002524857	benign	Long QT syndrome 11	2021-12-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003900120	SCV004719788	likely benign	AKAP9-related disorder	2019-06-13	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).