Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000900514 | SCV001044836 | benign | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003910741 | SCV004722500 | likely benign | ABCB11-related disorder | 2022-05-10 | 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, |
RCV001274329 | SCV001458321 | uncertain significance | Progressive familial intrahepatic cholestasis type 2 | 2019-12-14 | no assertion criteria provided | clinical testing |