Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000931741 | SCV001077412 | likely benign | Wilson disease | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003983281 | SCV004796632 | likely benign | ATP7B-related condition | 2022-01-17 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |