Table 4 Comparison of variant databases for COL4A5.
COL4A5 | ClinVar | ARUP | HGMD | LOVD |
|---|---|---|---|---|
Website | ||||
Total number of variants | 1260 | 807 | 905 (1169 for subscribers) | 1595 |
Curated | Submitters’ assessments recorded but a star system depending on number of reports and expert panel assessment | Submitters’ assessments recorded | Yes | Submitters’ assessments recorded |
Clinical details available | Includes publications with clinical details | Includes publications | Includes publications | Clinical details from submitters plus publications |
Includes benign or likely benign variants | Yes (n = 101) | Yes (n = 23) | Assessments only available to subscribers | Yes (n = 177) |
Cost | Freely available online | Freely available online | Publicly-available version up to 3 years previously; otherwise professional version | Freely available online |
