Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000604228 | SCV000731813 | likely benign | not specified | 2017-08-03 | criteria provided, single submitter | clinical testing | p.Thr99Thr in exon 2 of TBC1D24: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 5/30776 South Asi an chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadin stitute.org/; dbSNP rs767766165). |
Labcorp Genetics |
RCV000871831 | SCV001013555 | likely benign | Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 | 2022-07-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001726267 | SCV001961561 | likely benign | not provided | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004547756 | SCV004710570 | likely benign | TBC1D24-related disorder | 2021-06-22 | 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). |