Submissions for variant NM_001367624.2(ZNF469):c.139G>A (p.Gly47Ser)

gnomAD frequency: 0.00180  dbSNP: rs138954293

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000311608	SCV000399251	uncertain significance	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000497526	SCV000589895	likely benign	not provided	2021-01-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000497526	SCV002476471	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278429	SCV002565272	uncertain significance	Ehlers-Danlos syndrome	2018-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002392870	SCV002697707	likely benign	Cardiovascular phenotype	2023-11-14	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	RCV003920363	SCV004736031	likely benign	ZNF469-related disorder	2024-01-03	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).