Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000503558 | SCV000594456 | uncertain significance | not specified | 2017-03-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001055761 | SCV001220166 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2022-07-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002431457 | SCV002727250 | uncertain significance | Inborn genetic diseases | 2019-12-20 | criteria provided, single submitter | clinical testing | The p.R3611Q variant (also known as c.10832G>A), located in coding exon 57 of the DYNC1H1 gene, results from a G to A substitution at nucleotide position 10832. The arginine at codon 3611 is replaced by glutamine, an amino acid with highly 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. |