Submissions for variant NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu)

gnomAD frequency: 0.00587  dbSNP: rs184583062

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000407275	SCV000399287	likely benign	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000487949	SCV000530373	benign	not provided	2020-06-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24895405, 29228253)
CeGaT Center for Human Genetics Tuebingen	RCV000487949	SCV000575066	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	ZNF469: BS2
Invitae	RCV000487949	SCV002322337	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000407275	SCV002514255	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278438	SCV002565294	benign	Ehlers-Danlos syndrome	2022-05-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002418173	SCV002718603	benign	Cardiovascular phenotype	2019-01-04	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.