Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415306 | SCV000492783 | likely pathogenic | Hand tremor; Kayser-Fleischer ring | 2015-09-30 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001198322 | SCV001369211 | likely pathogenic | Wilson disease | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. |