Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000001023 | SCV000021173 | pathogenic | Fanconi anemia, complementation group I | 2007-04-20 | no assertion criteria provided | literature only | |
Leiden Open Variation Database | RCV000001023 | SCV001364862 | pathogenic | Fanconi anemia, complementation group I | 2011-02-07 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |