Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002417215 | SCV002718674 | uncertain significance | Primary ciliary dyskinesia | 2020-01-17 | criteria provided, single submitter | clinical testing | The p.L3583P variant (also known as c.10748T>C), located in coding exon 66 of the DNAH11 gene, results from a T to C substitution at nucleotide position 10748. The leucine at codon 3583 is replaced by proline, 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Labcorp Genetics |
RCV002417215 | SCV004368863 | likely benign | Primary ciliary dyskinesia | 2023-10-20 | criteria provided, single submitter | clinical testing |