Submissions for variant NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val)

gnomAD frequency: 0.00765  dbSNP: rs116532825

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000270214	SCV000399339	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	RCV000427460	SCV000510613	likely benign	not provided	2017-01-02	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000427460	SCV000524273	benign	not provided	2018-08-27	criteria provided, single submitter	clinical testing
Invitae	RCV000427460	SCV002407342	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000270214	SCV002514280	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002328837	SCV002631597	likely benign	Cardiovascular phenotype	2019-03-01	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.