Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Reproductive Medicine, |
RCV001000102 | SCV001156523 | likely pathogenic | Fanconi anemia complementation group L | 2019-05-15 | criteria provided, single submitter | research | Causative for POI by disturbance of DNA damage repair |
Leiden Open Variation Database | RCV001195066 | SCV001365351 | pathogenic | not provided | 2019-12-09 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Yajuan Yang. Comment: Variant observed de novo. |