Submissions for variant NM_004387.4(NKX2-5):c.606G>C (p.Leu202=)

gnomAD frequency: 0.00096  dbSNP: rs3729753

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000146754	SCV000223571	benign	not specified	2014-10-16	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.
PreventionGenetics, part of Exact Sciences	RCV000146754	SCV000310343	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000471215	SCV000562120	benign	Atrial septal defect 7	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617386	SCV000737578	benign	Cardiovascular phenotype	2015-11-15	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.
Genetic Services Laboratory, University of Chicago	RCV000146754	SCV000194073	likely benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000146754	SCV001918560	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000146754	SCV001932042	benign	not specified		no assertion criteria provided	clinical testing