Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000502051 | SCV000590933 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2017-06-07 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000502051 | SCV001621199 | likely benign | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925498 | SCV004741893 | likely benign | MCCC1-related disorder | 2019-05-15 | 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). |