Submissions for variant NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr)

gnomAD frequency: 0.00222  dbSNP: rs199727372

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724940	SCV000332568	uncertain significance	not provided	2015-07-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000298464	SCV000399394	uncertain significance	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000724940	SCV000577586	benign	not provided	2020-08-04	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29228253)
CeGaT Center for Human Genetics Tuebingen	RCV000724940	SCV001151050	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ZNF469: BP4, BS1
Invitae	RCV000724940	SCV002382204	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278264	SCV002565397	likely benign	Ehlers-Danlos syndrome	2022-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374452	SCV002667139	benign	Cardiovascular phenotype	2019-11-19	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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000724940	SCV001808717	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724940	SCV001971082	likely benign	not provided		no assertion criteria provided	clinical testing