Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Leiden Open Variation Database | RCV001194997 | SCV001364874 | pathogenic | Fanconi anemia, complementation group I | 2011-02-07 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |
Perkin |
RCV001194997 | SCV002023039 | pathogenic | Fanconi anemia, complementation group I | 2019-07-19 | no assertion criteria provided | clinical testing |