Submissions for variant NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys)

gnomAD frequency: 0.00080  dbSNP: rs551591362

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000342775	SCV000399289	likely benign	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000606456	SCV000715181	benign	not specified	2017-03-06	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000606456	SCV002050925	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Invitae	RCV002056517	SCV002413114	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000342775	SCV002514257	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278439	SCV002565297	likely benign	Ehlers-Danlos syndrome	2022-07-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002418175	SCV002723012	benign	Cardiovascular phenotype	2019-06-10	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.