Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001705564 | SCV000512804 | likely benign | not provided | 2019-01-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000969527 | SCV001117053 | likely benign | Pyruvate dehydrogenase E3 deficiency | 2023-12-21 | criteria provided, single submitter | clinical testing |