MYH7
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000355349.4 |
|---|---|
| ClinVar P/LP records | 433 |
| Low-record-burden flag | no |
| Unit rows | 229 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 11.8% | 256 bp |
| Adjacent exon block | 34.9% | 878 bp |
| Downstream-CDS | 100.0% | 5,805 bp |
Why this classification?
- Downstream coverage is high, but boundary, splice, dosage, or context assumptions dominate interpretation.
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 |
|---|---|---|---|---|
| Hypertrophic cardiomyopathy | 283 | Boundary-CDS payload architecture | 0.402827 | 1.000000 |
| Hypertrophic cardiomyopathy 1 | 142 | Boundary-CDS payload architecture | 0.415493 | 1.000000 |
| Cardiovascular phenotype | 129 | Boundary-CDS payload architecture | 0.410853 | 1.000000 |
| Cardiomyopathy | 84 | Boundary-CDS payload architecture | 0.428571 | 1.000000 |
| Dilated cardiomyopathy 1S | 71 | Boundary-CDS payload architecture | 0.394366 | 1.000000 |
| MYH7-related skeletal myopathy | 53 | Boundary-CDS payload architecture | 0.264151 | 1.000000 |
| Myosin storage myopathy | 49 | Boundary-CDS payload architecture | 0.244898 | 1.000000 |
| Primary familial hypertrophic cardiomyopathy | 41 | Boundary-CDS payload architecture | 0.365854 | 1.000000 |