Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Leiden Open Variation Database | RCV001194991 | SCV001364867 | pathogenic | Fanconi anemia, complementation group I | 2011-02-07 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |
Genome |
RCV001194991 | SCV001749470 | not provided | Fanconi anemia, complementation group I | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 12-18-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |