Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Network, |
RCV000791264 | SCV000930548 | uncertain significance | TONSL-related condition | 2016-11-04 | criteria provided, single submitter | clinical testing | This individual has been reported in PMID: 30773277 (family 8). |
University of Washington Center for Mendelian Genomics, |
RCV001261771 | SCV001439087 | likely pathogenic | Skeletal dysplaisia with extra-skeletal manifestations | no assertion criteria provided | research |