Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000924244 | SCV001069754 | likely benign | Muscle AMP deaminase deficiency | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001759669 | SCV001996491 | uncertain significance | not provided | 2019-10-09 | criteria provided, single submitter | clinical testing | Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV000924244 | SCV003826273 | uncertain significance | Muscle AMP deaminase deficiency | 2020-09-09 | criteria provided, single submitter | clinical testing |