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: CA185080 179760
VCEP: RASopathy VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) | Uncertain Significance | RASopathy | 2020-07-28 | 1.2 | - | SHOC2 |
| View | NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) | Uncertain Significance | RASopathy | 2020-07-28 | 1.1 | - | SHOC2 |
| View | NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) | Uncertain Significance | RASopathy | 2020-07-28 | 1.0 | - | SHOC2 |
Showing 1 to 3 of 3 rows