Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000355779 | SCV000344228 | uncertain significance | not provided | 2016-07-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000355779 | SCV004537536 | likely benign | not provided | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004537602 | SCV004713980 | likely benign | ABCB4-related disorder | 2021-06-02 | 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). |