Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001078990 | SCV001099391 | likely benign | Muscle AMP deaminase deficiency | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000676656 | SCV001776582 | uncertain significance | not provided | 2019-12-18 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV001078990 | SCV003826258 | uncertain significance | Muscle AMP deaminase deficiency | 2019-06-10 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000676656 | SCV000802450 | uncertain significance | not provided | 2018-01-12 | no assertion criteria provided | clinical testing |