Submissions for variant NM_001367624.2(ZNF469):c.1896G>A (p.Ser632=)

gnomAD frequency: 0.00090  dbSNP: rs554795578

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000373781	SCV000399284	uncertain significance	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001580076	SCV000535003	likely benign	not provided	2020-11-05	criteria provided, single submitter	clinical testing
Invitae	RCV001580076	SCV002322199	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278437	SCV002565291	uncertain significance	Ehlers-Danlos syndrome	2021-10-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002411213	SCV002719202	benign	Cardiovascular phenotype	2019-05-22	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.
CeGaT Center for Human Genetics Tuebingen	RCV001580076	SCV004138059	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	ZNF469: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003920365	SCV004728348	benign	ZNF469-related disorder	2019-10-15	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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001580076	SCV001809580	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001580076	SCV001973144	likely benign	not provided		no assertion criteria provided	clinical testing