Submissions for variant NM_005751.5(AKAP9):c.4826G>A (p.Arg1609Lys)

gnomAD frequency: 0.00026  dbSNP: rs148146011

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000826961	SCV000968565	likely benign	not provided	2021-07-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26582918, 30847666, 28003625, 24981977)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088793	SCV001028933	likely benign	Long QT syndrome	2019-12-31	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV001256719	SCV001433125	likely benign	not specified	2019-12-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002336731	SCV002638017	likely benign	Cardiovascular phenotype	2019-01-02	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	RCV000826961	SCV004164285	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	AKAP9: BS1, BS2
Clinical Genetics, Academic Medical Center	RCV000826961	SCV001917051	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000826961	SCV001975863	uncertain significance	not provided		no assertion criteria provided	clinical testing