Submissions for variant NM_012186.3(FOXE3):c.601G>A (p.Val201Met)

gnomAD frequency: 0.00329  dbSNP: rs530072475

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000877793	SCV001020581	benign	Congenital primary aphakia; Anterior segment dysgenesis	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001672978	SCV001886780	benign	not provided	2020-11-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24689660)
Ambry Genetics	RCV002354704	SCV002656228	benign	Cardiovascular phenotype	2019-03-21	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003323754	SCV004029064	likely benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003485655	SCV004240694	benign	Familial thoracic aortic aneurysm and aortic dissection	2023-04-20	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001672978	SCV004564088	likely benign	not provided	2023-11-08	criteria provided, single submitter	clinical testing