Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV001194642 | SCV001364307 | likely pathogenic | Congenital muscular hypertrophy-cerebral syndrome | 2020-03-17 | criteria provided, single submitter | research | |
Invitae | RCV001194642 | SCV001396715 | benign | Congenital muscular hypertrophy-cerebral syndrome | 2023-10-03 | criteria provided, single submitter | clinical testing |