Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Daryl Scott Lab, |
RCV001269298 | SCV001448645 | pathogenic | Pyruvate dehydrogenase E1-alpha deficiency | 2020-11-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001269298 | SCV001525902 | pathogenic | Pyruvate dehydrogenase E1-alpha deficiency | 2018-12-15 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |