Submissions for variant NM_005751.5(AKAP9):c.1536C>T (p.Leu512=)

gnomAD frequency: 0.00146  dbSNP: rs61757665

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123593	SCV000166932	benign	not specified	2012-01-26	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.
Invitae	RCV000464754	SCV000563350	benign	Long QT syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618866	SCV000735678	likely benign	Cardiovascular phenotype	2015-10-02	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.
Genome-Nilou Lab	RCV002253227	SCV002524819	benign	Long QT syndrome 11	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002253227	SCV002809390	benign	Long QT syndrome 11	2022-02-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000123593	SCV004038717	benign	not specified	2023-08-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905187	SCV004727333	likely benign	AKAP9-related disorder	2019-04-04	criteria provided, single submitter	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).
Clinical Genetics, Academic Medical Center	RCV000123593	SCV001917701	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000123593	SCV001928247	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723689	SCV001956469	likely benign	not provided		no assertion criteria provided	clinical testing