Submissions for variant NM_001367624.2(ZNF469):c.5087C>T (p.Pro1696Leu)

gnomAD frequency: 0.00752  dbSNP: rs115487796

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000368122	SCV000399358	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	RCV000425667	SCV000511609	likely benign	not provided	2017-01-02	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000432146	SCV000524276	benign	not specified	2017-01-04	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000425667	SCV002419800	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000368122	SCV002514288	benign	Brittle cornea syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002348060	SCV002645460	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.