Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002312756 | SCV000847146 | uncertain significance | Inborn genetic diseases | 2016-08-17 | criteria provided, single submitter | clinical testing | The c.*1C>T variant is located in the 3' untranslated region (3’ UTR) of the TBC1D24 gene. This variant results from a C to T substitution in the last translated codon. This nucleotide position is not well conserved in available vertebrate species and T is the reference nucleotide in several species. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |