Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002193822 | SCV002489228 | benign | Deficiency of acetyl-CoA acetyltransferase | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003916363 | SCV004733658 | likely benign | ACAT1-related disorder | 2019-09-21 | no assertion criteria provided | 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). |