The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA119185 7960
VCEP: Glaucoma VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000261.2(MYOC):c.754G>A (p.Gly252Arg) | Likely Pathogenic | juvenile open angle glaucoma | 2022-07-11 | 1.1 | ClinGen Glaucoma Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1 | MYOC |
| View | NM_000261.2(MYOC):c.754G>A (p.Gly252Arg) | Likely Pathogenic | juvenile open angle glaucoma | 2022-02-21 | 1.0 | - | MYOC |
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