Submissions for variant NM_005751.5(AKAP9):c.4872A>G (p.Glu1624=)

gnomAD frequency: 0.00003  dbSNP: rs570384292

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001703543	SCV000515641	likely benign	not provided	2019-09-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002339000	SCV002637405	likely benign	Cardiovascular phenotype	2020-10-13	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	RCV003647769	SCV004520641	likely benign	Long QT syndrome	2023-12-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001703543	SCV001978116	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001729583	SCV001979241	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001703543	SCV001979548	likely benign	not provided		no assertion criteria provided	clinical testing