Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000235855 | SCV000293760 | likely benign | not specified | 2017-11-08 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
ARUP Laboratories, |
RCV000235855 | SCV000603393 | uncertain significance | not specified | 2017-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000649539 | SCV000771368 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379050 | SCV002693553 | uncertain significance | Inborn genetic diseases | 2020-01-16 | criteria provided, single submitter | clinical testing | The p.A4358T variant (also known as c.13072G>A), located in coding exon 73 of the DYNC1H1 gene, results from a G to A substitution at nucleotide position 13072. The alanine at codon 4358 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly 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. |