Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001446143 | SCV001649186 | likely benign | Deficiency of acetyl-CoA acetyltransferase | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892175 | SCV004716599 | likely benign | ACAT1-related disorder | 2023-07-27 | 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). |