Submissions for variant NM_001367624.2(ZNF469):c.81G>A (p.Pro27=)

gnomAD frequency: 0.00004  dbSNP: rs534464702

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000369675	SCV000399249	uncertain significance	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001531241	SCV001746259	likely benign	not provided	2021-03-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001531241	SCV001751484	likely benign	not provided	2021-06-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001531241	SCV002177440	likely benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002429271	SCV002681391	likely benign	Cardiovascular phenotype	2021-01-20	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	RCV003969908	SCV004785786	likely benign	ZNF469-related disorder	2020-05-15	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).