Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001433412 | SCV001636202 | likely benign | Deficiency of alpha-mannosidase | 2023-01-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003405659 | SCV004137893 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | MAN2B1: PM2:Supporting, BP4, BP7 |