Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415337 | SCV000492889 | likely pathogenic | Narrow chest; Disproportionate short-limb short stature | 2015-06-01 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001196300 | SCV001366886 | likely pathogenic | Achondrogenesis type II | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. |