Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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 | 2024-07-27 | criteria provided, single submitter | clinical testing | The c.2768C>T (p.T923M) alteration is located in exon 10 (coding exon 10) of the DYNC1H1 gene. This alteration results from a C to T substitution at nucleotide position 2768, causing the threonine (T) at amino acid position 923 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |