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Tumor-predisposition control/caution
| MANE transcript | ENST00000450708.7 |
|---|---|
| ClinVar P/LP records | 665 |
| Low-record-burden flag | no |
| Unit rows | 49 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 25.9% | 468 bp |
| Adjacent exon block | 53.1% | 935 bp |
| Downstream-CDS | 100.0% | 1,830 bp |
Why this classification?
- This gene is retained as a control/caution class because high ClinVar burden should not be read as replacement suitability.
How to read this page
Record coverage summarizes ClinVar P/LP records mapped to this gene. It does not estimate patient coverage, editing efficiency, therapeutic efficacy, or safety.
Downstream-CDS values are transcript-boundary hypotheses. High downstream coverage can be boundary-driven and should be read with payload and context burden.
Condition-associated pathogenic-record groups
Record-level ClinVar condition facets. These are not patient cohorts, disease prevalence, or patient coverage.
| Condition label | P/LP records | Condition architecture | Local coverage | Boundary-CDS coverage |
|---|---|---|---|---|
| Multiple endocrine neoplasia, type 1 | 495 | Tumor-predisposition control context | 0.537374 | 0.991919 |
| Hereditary cancer-predisposing syndrome | 285 | Tumor-predisposition control context | 0.526316 | 1.000000 |