Submissions for variant NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu)

gnomAD frequency: 0.00058  dbSNP: rs771000169

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723706	SCV000224317	uncertain significance	not provided	2015-02-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000723706	SCV000532314	benign	not provided	2019-04-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000723706	SCV002336874	likely benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277329	SCV002565247	likely benign	Ehlers-Danlos syndrome	2021-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426826	SCV002726780	likely benign	Cardiovascular phenotype	2023-02-14	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.
PreventionGenetics, part of Exact Sciences	RCV003927581	SCV004738931	benign	ZNF469-related disorder	2023-08-16	no assertion criteria provided	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).