BLM
Tumor-predisposition control/caution
| MANE transcript | ENST00000355112.8 |
|---|---|
| ClinVar P/LP records | 583 |
| Low-record-burden flag | no |
| Unit rows | 121 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 15.4% | 662 bp |
| Adjacent exon block | 40.1% | 1,784 bp |
| Downstream-CDS | 100.0% | 4,251 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 |
|---|---|---|---|---|
| Bloom syndrome | 539 | Tumor-predisposition control context | 0.400742 | 0.990724 |
| Hereditary cancer-predisposing syndrome | 166 | Tumor-predisposition control context | 0.415663 | 1.000000 |