Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome- |
RCV000001754 | SCV002014265 | likely pathogenic | Deficiency of alpha-mannosidase | 2021-09-05 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000001754 | SCV000021910 | pathogenic | Deficiency of alpha-mannosidase | 1998-10-01 | no assertion criteria provided | literature only |