Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697866 | SCV000721296 | likely benign | not provided | 2020-12-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001430851 | SCV001633596 | likely benign | Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 | 2023-12-11 | criteria provided, single submitter | clinical testing |