Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730277 | SCV000858003 | uncertain significance | not provided | 2017-11-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000730277 | SCV004528569 | likely benign | not provided | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535832 | SCV004713230 | likely benign | ABCB4-related disorder | 2024-02-02 | 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). |