Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001195057 | SCV004196680 | likely pathogenic | Fanconi anemia complementation group C | 2023-03-30 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV001195057 | SCV001365333 | pathogenic | Fanconi anemia complementation group C | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |