Submissions for variant NM_005751.5(AKAP9):c.4825A>C (p.Arg1609=)

gnomAD frequency: 0.00033  dbSNP: rs143473598

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000862659	SCV001003194	benign	Long QT syndrome	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001536583	SCV001753362	likely benign	not provided	2021-07-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26582918)
Genome-Nilou Lab	RCV002253619	SCV002524841	benign	Long QT syndrome 11	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002336760	SCV002638016	likely benign	Cardiovascular phenotype	2018-12-28	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	RCV001536583	SCV004164284	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	AKAP9: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003938226	SCV004756423	likely benign	AKAP9-related disorder	2019-06-12	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).