Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001433965 | SCV001636763 | likely benign | Congenital muscular hypertrophy-cerebral syndrome | 2023-04-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495601 | SCV002795792 | likely benign | Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 2022-01-25 | criteria provided, single submitter | clinical testing |