Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000186099 | SCV000239124 | benign | not specified | 2013-09-13 | criteria provided, single submitter | clinical testing | The variant is found in MITO24-MITOP,MITONUC-MITOP panel(s). |
Illumina Laboratory Services, |
RCV000300746 | SCV000373465 | uncertain significance | Pyruvate carboxylase deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000300746 | SCV002402876 | benign | Pyruvate carboxylase deficiency | 2024-01-30 | criteria provided, single submitter | clinical testing |