Submissions for variant NM_004387.4(NKX2-5):c.594G>A (p.Gln198=)

gnomAD frequency: 0.00381  dbSNP: rs7728764

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242763	SCV000310342	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000463430	SCV000562116	benign	Atrial septal defect 7	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619732	SCV000736629	benign	Cardiovascular phenotype	2016-06-27	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.
GeneDx	RCV001668503	SCV001891825	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000242763	SCV001918650	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001668503	SCV001931120	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000242763	SCV001964406	benign	not specified		no assertion criteria provided	clinical testing