Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597591 | SCV000709457 | uncertain significance | not provided | 2018-07-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000597591 | SCV004267381 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004543391 | SCV004780560 | likely benign | ABCB4-related disorder | 2021-03-10 | 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). |