Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001054552 | SCV001218872 | benign | Primary ciliary dyskinesia | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001759995 | SCV001999181 | uncertain significance | not provided | 2019-11-09 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV001054552 | SCV002617891 | uncertain significance | Primary ciliary dyskinesia | 2019-10-10 | criteria provided, single submitter | clinical testing | The p.V3820I variant (also known as c.11458G>A), located in coding exon 70 of the DNAH11 gene, results from a G to A substitution at nucleotide position 11458. The valine at codon 3820 is replaced by isoleucine, 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. |