Submissions for variant NM_012186.3(FOXE3):c.423G>A (p.Lys141=)

gnomAD frequency: 0.01025  dbSNP: rs145081583

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253678	SCV000311873	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000253678	SCV000341061	benign	not specified	2016-04-12	criteria provided, single submitter	clinical testing
Invitae	RCV000878330	SCV001021218	benign	Congenital primary aphakia; Anterior segment dysgenesis	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001683064	SCV001897460	benign	not provided	2020-03-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002328744	SCV002628627	benign	Cardiovascular phenotype	2019-04-29	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	RCV000253678	SCV004029068	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000253678	SCV001925975	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001683064	SCV001972120	likely benign	not provided		no assertion criteria provided	clinical testing