Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000761271 | SCV000891229 | likely pathogenic | Fanconi anemia complementation group A | 2016-10-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000761271 | SCV002779938 | likely pathogenic | Fanconi anemia complementation group A | 2022-05-18 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000761271 | SCV004196117 | pathogenic | Fanconi anemia complementation group A | 2023-05-08 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV000761271 | SCV001426076 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |