Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001223952 | SCV001396123 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436871 | SCV002750384 | uncertain significance | Inborn genetic diseases | 2021-02-02 | criteria provided, single submitter | clinical testing | The p.T923M variant (also known as c.2768C>T), located in coding exon 10 of the DYNC1H1 gene, results from a C to T substitution at nucleotide position 2768. The threonine at codon 923 is replaced by methionine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |