Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001455095 | SCV001658846 | likely benign | Alpha-1-antitrypsin deficiency | 2021-11-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003910415 | SCV004719688 | likely benign | SERPINA1-related disorder | 2022-02-28 | 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). |