Submissions for variant NM_001367624.2(ZNF469):c.2370G>A (p.Leu790=)

gnomAD frequency: 0.00882  dbSNP: rs147859144

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000363797	SCV000399295	likely benign	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001697667	SCV000524269	benign	not provided	2018-06-13	criteria provided, single submitter	clinical testing
Invitae	RCV001697667	SCV002463135	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000363797	SCV002514260	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278441	SCV002565305	likely benign	Ehlers-Danlos syndrome	2018-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002450878	SCV002735866	likely benign	Cardiovascular phenotype	2019-03-01	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.