Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253022 | SCV001428533 | pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2018-05-29 | criteria provided, single submitter | clinical testing | This variant was identified as homozygous |