Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000296238 | SCV000339864 | uncertain significance | not provided | 2017-07-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000296238 | SCV001728139 | benign | not provided | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000296238 | SCV004146005 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | ABCG8: BP4 |
Mayo Clinic Laboratories, |
RCV000296238 | SCV004224888 | uncertain significance | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | BP4 |
Prevention |
RCV003909985 | SCV004722312 | likely benign | ABCG8-related condition | 2022-03-17 | 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). |