Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189704 | SCV000243351 | likely benign | not provided | 2021-04-21 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24291220) |
Invitae | RCV000704370 | SCV000833316 | likely benign | Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000189704 | SCV001150739 | uncertain significance | not provided | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002399704 | SCV002714433 | uncertain significance | Inborn genetic diseases | 2020-03-22 | criteria provided, single submitter | clinical testing | The p.R60W variant (also known as c.178C>T), located in coding exon 1 of the TBC1D24 gene, results from a C to T substitution at nucleotide position 178. The arginine at codon 60 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Diagnostic Laboratory, |
RCV000189704 | SCV001742451 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000189704 | SCV001968603 | uncertain significance | not provided | no assertion criteria provided | clinical testing |