Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001194964 | SCV004238187 | likely pathogenic | Fanconi anemia complementation group G | 2023-06-29 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV001194964 | SCV001364838 | pathogenic | Fanconi anemia complementation group G | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Johan de Winter. |