Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001194912 | SCV002024587 | likely pathogenic | Fanconi anemia complementation group D2 | 2019-02-01 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256693 | SCV002529454 | uncertain significance | Fanconi anemia | 2021-11-26 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV001194912 | SCV002806239 | uncertain significance | Fanconi anemia complementation group D2 | 2021-12-07 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV001194912 | SCV001364776 | uncertain significance | Fanconi anemia complementation group D2 | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |