ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.3522G>A (p.Pro1174=) (rs9938800)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000264366 SCV000338461 benign not specified 2015-12-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291992 SCV000399325 benign Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000264366 SCV000520439 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 RCV000291992 SCV000733530 benign Corneal fragility keratoglobus, blue sclerae AND joint hypermobility no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000291992 SCV000745868 benign Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2016-01-15 no assertion criteria provided clinical testing

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