Submissions for variant NM_005751.5(AKAP9):c.288G>T (p.Glu96Asp)

gnomAD frequency: 0.00112  dbSNP: rs34953651

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000170627	SCV000223179	likely benign	not specified	2015-12-01	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000557613	SCV000627725	likely benign	Long QT syndrome	2024-01-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433729	SCV002750831	likely benign	Cardiovascular phenotype	2018-04-24	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.
Fulgent Genetics, Fulgent Genetics	RCV002498848	SCV002807426	likely benign	Long QT syndrome 11	2021-08-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907534	SCV004720269	likely benign	AKAP9-related disorder	2020-05-01	no assertion criteria provided	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).