Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698060 | SCV000732544 | likely benign | not provided | 2020-11-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002066878 | SCV002466475 | likely benign | Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 | 2022-10-17 | criteria provided, single submitter | clinical testing |