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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000261.2(MYOC):c.1440C>A (p.Asn480Lys) | Pathogenic | juvenile open angle glaucoma | 2022-05-25 | 1.0 | ClinGen Glaucoma Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1 | MYOC |
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