Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000487452 | SCV000574529 | pathogenic | Wilson disease | 2017-03-01 | criteria provided, single submitter | clinical testing | 18 years old male, a diagnosed case of Wilson disease. Next generation DNA sequencing of peripheral blood sample has revealed the presence of a homozygous pathogenic variant c.3236G>T in the ATP7B gene |
Genome- |
RCV000487452 | SCV001977265 | likely pathogenic | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing |