Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000945134 | SCV001091122 | likely benign | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003456460 | SCV004184263 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | GNPTAB: BP4, BP7 |
Natera, |
RCV001827027 | SCV002088578 | likely benign | Mucolipidosis type II | 2020-10-20 | no assertion criteria provided | clinical testing |