Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697544 | SCV000719249 | likely benign | not provided | 2019-01-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000929760 | SCV001075396 | benign | Pyruvate dehydrogenase E1-alpha deficiency | 2023-12-31 | criteria provided, single submitter | clinical testing |