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: CA256480 12588
VCEP: RASopathy VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_004985.4(KRAS):c.173C>T (p.Thr58Ile) | Pathogenic | Noonan syndrome | 2018-12-10 | 1.0 | - | KRAS |
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