Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002071762 | SCV002425943 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004553777 | SCV004759481 | likely benign | COL18A1-related disorder | 2020-03-17 | 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). |