Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001452517 | SCV001656185 | likely benign | Pyruvate dehydrogenase E1-alpha deficiency | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003438805 | SCV004166689 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | PDHA1: PP2, BS2 |
Natera, |
RCV001826276 | SCV002076923 | likely benign | Pyruvate dehydrogenase complex deficiency | 2019-11-11 | no assertion criteria provided | clinical testing |