Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729199 | SCV000856841 | uncertain significance | not provided | 2017-09-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000729199 | SCV004252126 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535819 | SCV004717760 | likely benign | ABCB4-related disorder | 2022-02-14 | 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). |