Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000875952 | SCV001018446 | benign | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000875952 | SCV001452997 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2020-02-13 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003955734 | SCV004773993 | likely benign | MCCC2-related disorder | 2019-07-11 | 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). |