Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001307464 | SCV001496877 | benign | Primary ciliary dyskinesia | 2023-10-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001773615 | SCV001992984 | uncertain significance | not provided | 2019-06-28 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV001307464 | SCV002729879 | uncertain significance | Primary ciliary dyskinesia | 2021-08-04 | criteria provided, single submitter | clinical testing | The p.Q3599R variant (also known as c.10796A>G), located in coding exon 66 of the DNAH11 gene, results from an A to G substitution at nucleotide position 10796. The glutamine at codon 3599 is replaced by arginine, an amino acid with highly similar 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. |