Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000341533 | SCV000373460 | uncertain significance | Pyruvate carboxylase deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001548073 | SCV001767926 | likely benign | not provided | 2019-08-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000341533 | SCV003246346 | benign | Pyruvate carboxylase deficiency | 2024-01-29 | criteria provided, single submitter | clinical testing |