Submissions for variant NM_005751.5(AKAP9):c.6921A>G (p.Gln2307=)

gnomAD frequency: 0.00136  dbSNP: rs141156177

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000252879	SCV000318032	likely benign	Cardiovascular phenotype	2016-06-16	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.
Invitae	RCV001079408	SCV000563342	benign	Long QT syndrome	2024-01-04	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000755802	SCV000883383	benign	not provided	2017-08-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001174573	SCV001337735	benign	not specified	2020-01-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000755802	SCV001882192	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253332	SCV002524855	benign	Long QT syndrome 11	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000755802	SCV004164293	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	AKAP9: BP4, BP7