ERN-EYE organises CPMS RED-VAR four times a year for variant validation for trials.
For whom: All ERN-EYE members and Affiliated Partners, Need expert opinion on genetic results for Rare Eye Disease (for Gene Therapy prescription for example)
When: ZOOM meeting online 4 times a year
What: Multidisicplinary – Variant validation for trials
ERN-EYE opportunity to access to:
Expertise
Multidisciplinary team (geneticists, ophthalmologists)
Variants of Uncertain Significance
Assessment of pathogenicity of variants and grading
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