Submissions for variant NM_004387.4(NKX2-5):c.63A>G (p.Glu21=)

gnomAD frequency: 0.44081  dbSNP: rs2277923

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037967	SCV000061633	benign	not specified	2016-06-14	criteria provided, single submitter	clinical testing	p.Glu21Glu in exon 1 of NKX2-5: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 67% (6119/9090) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs2277923).
Eurofins Ntd Llc (ga)	RCV000037967	SCV000112983	benign	not specified	2013-06-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000037967	SCV000170768	benign	not specified	2013-01-23	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.
Genetic Services Laboratory, University of Chicago	RCV000037967	SCV000194074	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000037967	SCV000310345	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621997	SCV000735010	benign	Cardiovascular phenotype	2015-05-18	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001519748	SCV001728673	benign	Atrial septal defect 7	2024-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000037967	SCV001741236	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037967	SCV001918588	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000037967	SCV001933009	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037967	SCV001954470	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037967	SCV001973173	benign	not specified		no assertion criteria provided	clinical testing