Submissions for variant NM_001367624.2(ZNF469):c.2913C>A (p.Gly971=)

gnomAD frequency: 0.02154  dbSNP: rs60462217

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000307426	SCV000399308	likely benign	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000430057	SCV000524270	benign	not specified	2016-10-20	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	RCV002056519	SCV002402020	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000307426	SCV002514268	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278447	SCV002565318	benign	Ehlers-Danlos syndrome	2018-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002436171	SCV002745958	benign	Cardiovascular phenotype	2019-04-19	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.