Submissions for variant NM_001367624.2(ZNF469):c.4479G>A (p.Pro1493=)

gnomAD frequency: 0.00101  dbSNP: rs373162171

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000407280	SCV000399347	uncertain significance	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001718668	SCV000535464	likely benign	not provided	2021-04-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001718668	SCV002321051	likely benign	not provided	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002328842	SCV002628781	likely benign	Cardiovascular phenotype	2022-02-11	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004586684	SCV005075814	likely benign	not specified	2024-04-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003957654	SCV004773194	likely benign	ZNF469-related disorder	2020-07-02	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).