Submissions for variant NM_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser)

gnomAD frequency: 0.01110  dbSNP: rs113484918

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000276288	SCV000399296	likely benign	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000421347	SCV000511062	benign	not provided	2016-12-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000421347	SCV000730944	benign	not provided	2019-03-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000421347	SCV001722280	benign	not provided	2025-01-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000276288	SCV002514261	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278442	SCV002565309	benign	Ehlers-Danlos syndrome	2022-06-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002450879	SCV002736118	benign	Cardiovascular phenotype	2019-05-15	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.
Breakthrough Genomics, Breakthrough Genomics	RCV000421347	SCV005212233	likely benign	not provided		criteria provided, single submitter	not provided