Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001468363 | SCV001672408 | likely benign | Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001692386 | SCV001906668 | likely benign | not provided | 2020-02-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900616 | SCV004714252 | likely benign | TBC1D24-related condition | 2022-02-14 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |