Table 6 The results for the completeness at data level for cardiology disorders. Equation 2 was used to calculate these results. Note that the total number of unique variations does not equal the total number of variations stored in each database. This is because the same variation can be found in multiple databases (see Fig. 4)
Database | Number of variations | Completeness at the Data Level (%) |
|---|---|---|
Hypertrophic Cardiomyopathy | ||
ClinVar | 15,374 | 91.29% |
Ensembl | 4,388 | 26.06% |
GWAS Catalog | 104 | 0.62% |
LOVD | 480 | 2.85% |
CardioDB | 1,022 | 6.07% |
Number of unique variations | 16,840 | |
Dilated Cardiomyopathy | ||
ClinVar | 29,216 | 97.89% |
Ensembl | 8383 | 28.07% |
GWAS Catalog | 66 | 0.22% |
LOVD | 520 | 1.74% |
CardioDB | 317 | 1.06% |
Number of unique variations | 29,845 | |
Arrhythmogenic Cardiomyopathy | ||
ClinVar | 6,769 | 96.70% |
Ensembl | 400 | 5.71% |
GWAS Catalog | 0 | 0.00% |
LOVD | 249 | 3.55% |
CardioDB | 110 | 1.57% |
Number of unique variations | 7,000 | |
Short QT Syndrome | ||
ClinVar | 538 | 98.90% |
Ensembl | 42 | 7.72% |
GWAS Catalog | 0 | 0.00% |
LOVD | 4 | 0.74% |
CardioDB | 0 | 0.00% |
Number of unique variations | 544 | |
Restrictive Cardiomyopathy | ||
ClinVar | 155 | 89.08% |
Ensembl | 37 | 21.26% |
GWAS Catalog | 0 | 0.00% |
LOVD | 22 | 12.64% |
CardioDB | 0 | 0.00% |
Number of unique variations | 174 | |