Submissions for variant NM_001367624.2(ZNF469):c.609C>A (p.Pro203=)

gnomAD frequency: 0.00008  dbSNP: rs886052390

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000260593	SCV000399256	uncertain significance	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001574733	SCV001801603	likely benign	not provided	2019-11-14	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278431	SCV002565379	uncertain significance	Ehlers-Danlos syndrome	2020-04-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002356431	SCV002656312	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001574733	SCV003281535	likely benign	not provided	2023-12-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003920364	SCV004729784	likely benign	ZNF469-related disorder	2019-05-09	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).