Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517453 | SCV000615755 | likely benign | not specified | 2017-06-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316472 | SCV000851273 | likely benign | Inborn genetic diseases | 2016-10-03 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV000863886 | SCV001004615 | likely benign | Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001591173 | SCV001826107 | likely benign | not provided | 2021-06-25 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27535533) |
Prevention |
RCV003960227 | SCV004776928 | likely benign | TBC1D24-related condition | 2023-04-25 | 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). |