Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001239122 | SCV001411973 | likely benign | Deficiency of alpha-mannosidase | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003229885 | SCV003927533 | uncertain significance | not provided | 2023-05-09 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV001239122 | SCV002086917 | uncertain significance | Deficiency of alpha-mannosidase | 2020-02-13 | no assertion criteria provided | clinical testing |