Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000966286 | SCV001113585 | likely benign | Mucolipidosis type IV | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003413759 | SCV004146456 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | MCOLN1: BP4, BP7 |
Natera, |
RCV000966286 | SCV002091372 | likely benign | Mucolipidosis type IV | 2020-12-01 | no assertion criteria provided | clinical testing |