Submissions for variant NM_001367624.2(ZNF469):c.2931C>T (p.Gly977=)

gnomAD frequency: 0.00287  dbSNP: rs539527724

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000404639	SCV000399310	uncertain significance	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001512572	SCV000723492	likely benign	not provided	2020-06-12	criteria provided, single submitter	clinical testing
Invitae	RCV001512572	SCV001720017	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278448	SCV002565320	likely benign	Ehlers-Danlos syndrome	2022-06-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002436172	SCV002746077	likely benign	Cardiovascular phenotype	2020-01-27	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.
PreventionGenetics, part of Exact Sciences	RCV003940260	SCV004751654	benign	ZNF469-related disorder	2019-06-07	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).