Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000268204 | SCV000341879 | uncertain significance | not provided | 2018-08-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000268204 | SCV004511195 | likely benign | not provided | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535403 | SCV004723589 | likely benign | ABCB4-related disorder | 2021-11-11 | 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). |