Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000232030 | SCV000286995 | benign | Primary ciliary dyskinesia | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000232030 | SCV002607022 | uncertain significance | Primary ciliary dyskinesia | 2021-11-15 | criteria provided, single submitter | clinical testing | The p.M1096I variant (also known as c.3288G>A), located in coding exon 17 of the DNAH11 gene, results from a G to A substitution at nucleotide position 3288. The methionine at codon 1096 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, isoleucine is the reference amino acid in other 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. |
Revvity Omics, |
RCV003485566 | SCV004234364 | uncertain significance | Primary ciliary dyskinesia 7 | 2023-02-09 | criteria provided, single submitter | clinical testing |