Submissions for variant NM_001367624.2(ZNF469):c.9921G>A (p.Thr3307=)

gnomAD frequency: 0.00009  dbSNP: rs533072680

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000277485	SCV000399439	uncertain significance	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001705479	SCV000533886	likely benign	not provided	2019-10-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001705479	SCV002364470	likely benign	not provided	2024-01-06	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278479	SCV002565454	uncertain significance	Ehlers-Danlos syndrome	2022-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002379204	SCV002695726	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.
CeGaT Center for Human Genetics Tuebingen	RCV001705479	SCV005093322	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ZNF469: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003969909	SCV004781673	likely benign	ZNF469-related disorder	2019-08-15	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).