Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001268901 | SCV001448145 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001776167 | SCV002014309 | pathogenic | Deficiency of alpha-mannosidase | 2021-09-05 | criteria provided, single submitter | clinical testing |