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: CA136077 40665
VCEP: RASopathy VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_005633.3(SOS1):c.1230G>A (p.Gln410=) | Benign | RASopathy | 2024-10-02 | 1.2 | ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS1 Version 2.1.0 | SOS1 |
| View | NM_005633.3(SOS1):c.1230G>A (p.Gln410=) | Benign | RASopathy | 2024-09-26 | 1.1 | ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS1 Version 2.1.0 | SOS1 |
| View | NM_005633.3(SOS1):c.1230G>A (p.Gln410=) | Benign | RASopathy | 2024-09-26 | 1.0 | ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS1 Version 2.1.0 | SOS1 |
Showing 1 to 3 of 3 rows