Submissions for variant NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=)

gnomAD frequency: 0.00208  dbSNP: rs558108271

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001697451	SCV000717326	likely benign	not provided	2020-05-15	criteria provided, single submitter	clinical testing
Invitae	RCV001697451	SCV002406691	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002245044	SCV002514317	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279397	SCV002565415	uncertain significance	Ehlers-Danlos syndrome	2019-06-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002413708	SCV002675782	likely benign	Cardiovascular phenotype	2020-09-30	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.
Fulgent Genetics, Fulgent Genetics	RCV002245044	SCV002805824	likely benign	Brittle cornea syndrome 1	2021-12-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915774	SCV004737145	benign	ZNF469-related disorder	2019-05-02	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).