Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000285767 | SCV000430480 | uncertain significance | Sitosterolemia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000285767 | SCV002495378 | likely benign | Sitosterolemia | 2022-10-28 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323518 | SCV004029657 | uncertain significance | not specified | 2023-07-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003922454 | SCV004740971 | likely benign | ABCG5-related disorder | 2019-10-01 | 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). |