Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000894863 | SCV001038873 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000894863 | SCV001858829 | likely benign | not provided | 2020-11-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000894863 | SCV004136678 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | PUS1: BP4, BP7 |
Natera, |
RCV001276805 | SCV001463354 | likely benign | Inborn mitochondrial myopathy; Sideroblastic anemia | 2020-09-16 | no assertion criteria provided | clinical testing |