Submissions for variant NM_001367624.2(ZNF469):c.1471G>A (p.Ala491Thr)

gnomAD frequency: 0.00632  dbSNP: rs117555121

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000405817	SCV000399270	likely benign	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000487882	SCV000530372	benign	not provided	2018-09-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000487882	SCV000575063	uncertain significance	not provided	2016-10-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000487882	SCV002429738	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278434	SCV002565275	benign	Ehlers-Danlos syndrome	2020-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002392871	SCV002697519	benign	Cardiovascular phenotype	2019-03-20	criteria provided, single submitter	clinical testing	This alteration is classified as 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.