Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000806984 | SCV000947008 | benign | Primary ciliary dyskinesia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000806984 | SCV002611493 | uncertain significance | Primary ciliary dyskinesia | 2022-07-03 | criteria provided, single submitter | clinical testing | The p.V1094D variant (also known as c.3281T>A), located in coding exon 17 of the DNAH11 gene, results from a T to A substitution at nucleotide position 3281. The valine at codon 1094 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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. |