Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000884799 | SCV001028200 | benign | PHGDH deficiency | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001779093 | SCV002015796 | likely benign | not provided | 2021-06-04 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV003338839 | SCV004049106 | likely benign | Neu-Laxova syndrome 1 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000884799 | SCV004049107 | likely benign | PHGDH deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000884799 | SCV001453146 | benign | PHGDH deficiency | 2020-05-02 | no assertion criteria provided | clinical testing |