Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Leiden Open Variation Database | RCV001030092 | SCV001192888 | pathogenic | Fanconi anemia complementation group N | 2019-05-13 | no assertion criteria provided | curation | Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitters to LOVD: Johan de Winter, LOVD-team, but with Curator vacancy. |