Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001925493 | SCV002168424 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-11-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003289206 | SCV003955512 | uncertain significance | Inborn genetic diseases | 2023-05-26 | criteria provided, single submitter | clinical testing | The c.6704G>A (p.R2235H) alteration is located in exon 33 (coding exon 33) of the DYNC1H1 gene. This alteration results from a G to A substitution at nucleotide position 6704, causing the arginine (R) at amino acid position 2235 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |