Submissions for variant NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala)

gnomAD frequency: 0.00458  dbSNP: rs281865461

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000552119	SCV000644787	benign	Congenital primary aphakia; Anterior segment dysgenesis	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001573196	SCV000730952	likely benign	not provided	2021-05-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 11159941, 26854927)
Ambry Genetics	RCV002358538	SCV002651807	benign	Cardiovascular phenotype	2019-02-16	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	RCV000600499	SCV004029070	likely benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573196	SCV004123807	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	FOXE3: BS2
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003485602	SCV004240693	benign	Familial thoracic aortic aneurysm and aortic dissection	2023-01-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573196	SCV004564944	likely benign	not provided	2023-11-09	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573196	SCV001798676	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000600499	SCV001807644	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000600499	SCV001920843	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573196	SCV001970495	likely benign	not provided		no assertion criteria provided	clinical testing