Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000766209 | SCV000897689 | pathogenic | XFE progeroid syndrome | 2019-04-04 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV001034543 | SCV001197908 | likely pathogenic | Hutchinson-Gilford syndrome | no assertion criteria provided | research | ||
Leiden Open Variation Database | RCV001194774 | SCV001364558 | pathogenic | not provided | 2017-11-03 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Junko Oshima. |