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: CA343724143 2575096
VCEP: Glaucoma VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000261.2:c.1255A>G | Uncertain Significance | primary open angle glaucoma | 2023-08-08 | 1.0 | - | MYOC |
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