Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001404202 | SCV001606098 | likely benign | Deficiency of hyaluronoglucosaminidase | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003438769 | SCV004148022 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | HYAL1: BP4, BP7 |
Natera, |
RCV001404202 | SCV002082363 | likely benign | Deficiency of hyaluronoglucosaminidase | 2020-02-04 | no assertion criteria provided | clinical testing |