Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV000789029 | SCV000928366 | likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency | 2018-05-10 | criteria provided, single submitter | clinical testing | PS2, PM2,PP2,PP3 |