Submissions for variant NM_001367624.1(ZNF469):c.2130T>C (p.Pro710=) (rs12918876)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen	RCV000303039	SCV000733528	benign	Corneal fragility keratoglobus, blue sclerae AND joint hypermobility		no assertion criteria provided	clinical testing
GeneDx	RCV000433240	SCV000524302	benign	not specified	2016-09-29	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.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam	RCV000303039	SCV000745866	benign	Corneal fragility keratoglobus, blue sclerae AND joint hypermobility	2016-01-15	no assertion criteria provided	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000303039	SCV000399291	benign	Corneal fragility keratoglobus, blue sclerae AND joint hypermobility	2016-06-14	criteria provided, single submitter	clinical testing