Submissions for variant NM_001367624.2(ZNF469):c.4884G>A (p.Thr1628=)

gnomAD frequency: 0.00893  dbSNP: rs141666432

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000361124	SCV000399352	likely benign	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000423693	SCV000524275	benign	not specified	2017-01-04	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV002056521	SCV002356960	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000361124	SCV002514286	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002338907	SCV002638398	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.