ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000303039 SCV000399291 benign Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter 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.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000303039 SCV000733528 benign Brittle cornea syndrome 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000303039 SCV000745866 benign Brittle cornea syndrome 1 2016-01-15 no assertion criteria provided clinical testing

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