Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001200646 | SCV001371656 | likely pathogenic | not provided | 2020-06-01 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV002290634 | SCV002581440 | likely pathogenic | Bethlem myopathy 1 | 2021-07-27 | criteria provided, single submitter | clinical testing |