Submissions for variant NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser)

gnomAD frequency: 0.99690  dbSNP: rs1063242

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000171725	SCV000050739	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
GeneDx	RCV000123587	SCV000166926	benign	not specified	2011-08-08	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.
Eurofins Ntd Llc (ga)	RCV000123587	SCV000229836	benign	not specified	2015-06-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000123587	SCV000311263	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000248223	SCV000317642	benign	Cardiovascular phenotype	2015-03-09	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV000282743	SCV000470311	likely benign	Congenital long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000380065	SCV001000053	benign	Long QT syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000123587	SCV001361186	benign	not specified	2019-08-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000615983	SCV002524869	benign	Long QT syndrome 11	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000171725	SCV005221004	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000615983	SCV000734582	benign	Long QT syndrome 11		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000123587	SCV001924881	benign	not specified		no assertion criteria provided	clinical testing