Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001090895 | SCV001246659 | uncertain significance | not provided | 2019-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001090895 | SCV004612144 | likely benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004536140 | SCV004735381 | likely benign | ABCB4-related disorder | 2024-01-12 | 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). |