Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000864911 | SCV001005795 | likely benign | Wilson disease | 2024-01-16 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000864911 | SCV002050049 | likely benign | Wilson disease | 2021-05-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003326498 | SCV004033262 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | ATP7B: BP4, BP7 |
Prevention |
RCV003892806 | SCV004712988 | likely benign | ATP7B-related condition | 2021-10-16 | 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). |
Natera, |
RCV000864911 | SCV001456174 | uncertain significance | Wilson disease | 2020-04-15 | no assertion criteria provided | clinical testing |