Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000902374 | SCV001046793 | likely benign | Mucolipidosis type IV | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003413718 | SCV004146459 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | MCOLN1: BP4, BP7 |
Natera, |
RCV000902374 | SCV001456132 | likely benign | Mucolipidosis type IV | 2020-09-16 | no assertion criteria provided | clinical testing |