Submissions for variant NM_001367624.2(ZNF469):c.7553C>A (p.Pro2518His)

gnomAD frequency: 0.00196  dbSNP: rs201943633

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000359081	SCV000399398	uncertain significance	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000512905	SCV000608787	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ZNF469: BP4, BS1
GeneDx	RCV000512905	SCV000731151	likely benign	not provided	2020-07-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29228253, 28622062)
Invitae	RCV000512905	SCV002395471	likely benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278467	SCV002565400	uncertain significance	Ehlers-Danlos syndrome	2022-07-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002392875	SCV002671726	benign	Cardiovascular phenotype	2019-09-06	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.
PreventionGenetics, part of Exact Sciences	RCV003940261	SCV004752740	likely benign	ZNF469-related disorder	2022-08-02	criteria provided, single submitter	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).