Submissions for variant NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys)

gnomAD frequency: 0.00085  dbSNP: rs368772806

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000336625	SCV000335726	benign	not specified	2015-11-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000336625	SCV000730376	benign	not specified	2017-02-27	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002059129	SCV002409493	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244731	SCV002514244	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000336625	SCV002548194	likely benign	not specified	2022-05-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278279	SCV002565445	benign	Ehlers-Danlos syndrome	2018-12-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374460	SCV002686920	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.