Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000705622 | SCV000834628 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-11-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001662779 | SCV001875132 | uncertain significance | not provided | 2021-06-18 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25512093, 26100331, 25609763, 27535533) |
Ambry Genetics | RCV002369961 | SCV002686556 | uncertain significance | Inborn genetic diseases | 2019-10-15 | criteria provided, single submitter | clinical testing | The p.Q31R variant (also known as c.92A>G), located in coding exon 1 of the DYNC1H1 gene, results from an A to G substitution at nucleotide position 92. The glutamine at codon 31 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well 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. |