Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670106 | SCV000794922 | likely pathogenic | Fanconi anemia complementation group A | 2017-10-19 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV000670106 | SCV001426081 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |