Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Genomic Statistics and Bioinformatics, |
RCV000023778 | SCV001482024 | pathogenic | L-2-hydroxyglutaric aciduria | criteria provided, single submitter | clinical testing | ACMG classificatio: class 5 (PVS1, PM2, PP5) | |
OMIM | RCV000023778 | SCV000045069 | pathogenic | L-2-hydroxyglutaric aciduria | 2011-09-21 | no assertion criteria provided | literature only |