Submissions for variant NM_005751.5(AKAP9):c.3066A>G (p.Gly1022=)

gnomAD frequency: 0.00008  dbSNP: rs372748115

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001174574	SCV001337737	benign	not specified	2020-01-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001410281	SCV001612325	likely benign	Long QT syndrome	2024-08-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253779	SCV002524823	benign	Long QT syndrome 11	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002445412	SCV002752993	likely benign	Cardiovascular phenotype	2019-12-30	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.
Clinical Genetics, Academic Medical Center	RCV001174574	SCV001918671	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724261	SCV001952855	likely benign	not provided		no assertion criteria provided	clinical testing