Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000001675 | SCV000595496 | pathogenic | L-2-hydroxyglutaric aciduria | 2017-06-07 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000001675 | SCV001443011 | pathogenic | L-2-hydroxyglutaric aciduria | 2020-03-01 | criteria provided, single submitter | clinical testing | Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PVS1,PM2,PM3,PP1 |
OMIM | RCV000001675 | SCV000021831 | pathogenic | L-2-hydroxyglutaric aciduria | 2004-11-15 | no assertion criteria provided | literature only |