Submissions for variant NM_004387.4(NKX2-5):c.237G>C (p.Pro79=)

gnomAD frequency: 0.00115  dbSNP: rs72554029

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030336	SCV000053003	likely benign	Atrial septal defect 7	2011-08-18	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000030336	SCV000288515	benign	Atrial septal defect 7	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000301072	SCV000342973	likely benign	not specified	2016-07-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000301072	SCV000516622	likely benign	not specified	2018-02-12	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.
Ambry Genetics	RCV000617707	SCV000735245	likely benign	Cardiovascular phenotype	2023-08-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV003389673	SCV001500861	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	NKX2-5: BP4, BP7, BS1