Submissions for variant NM_012186.3(FOXE3):c.16G>A (p.Asp6Asn)

gnomAD frequency: 0.00868  dbSNP: rs765169217

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000356268	SCV000341772	likely benign	not specified	2016-05-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000878654	SCV001021591	benign	Congenital primary aphakia; Anterior segment dysgenesis	2024-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001651321	SCV001867922	benign	not provided	2020-10-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20140963)
Ambry Genetics	RCV002401998	SCV002712460	likely benign	Cardiovascular phenotype	2019-03-08	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.
Breakthrough Genomics, Breakthrough Genomics	RCV001651321	SCV005260387	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000356268	SCV001977881	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000356268	SCV001979010	benign	not specified		no assertion criteria provided	clinical testing