Submissions for variant NM_004387.4(NKX2-5):c.335-162G>A

gnomAD frequency: 0.00121  dbSNP: rs200039950

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704243	SCV000223573	likely benign	not provided	2021-03-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27373559, 26334177, 25500235)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000556878	SCV000644776	benign	Atrial septal defect 7	2024-01-08	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492706	SCV002795177	benign	Atrial septal defect 7; Conotruncal heart malformations; Hypothyroidism, congenital, nongoitrous, 5; Tetralogy of Fallot; Ventricular septal defect 3; Hypoplastic left heart syndrome 2	2022-02-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001704243	SCV004158042	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	NKX2-5: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV001704243	SCV005222014	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003937530	SCV004749663	likely benign	NKX2-5-related disorder	2019-10-31	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).