Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000149582 | SCV000680328 | pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency | 2017-12-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001091950 | SCV001248252 | pathogenic | not provided | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001091950 | SCV001447178 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000149582 | SCV000196558 | pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency | 2014-09-01 | no assertion criteria provided | literature only |