Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000272871 | SCV000468118 | uncertain significance | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000272871 | SCV000551748 | benign | Primary ciliary dyskinesia | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764702 | SCV000895836 | uncertain significance | Primary ciliary dyskinesia 7 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002264931 | SCV002547155 | uncertain significance | not provided | 2022-01-07 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign with a DNAH11-related disease to our knowledge; This variant is associated with the following publications: (PMID: 33111339) |
Ambry Genetics | RCV000272871 | SCV002651590 | uncertain significance | Primary ciliary dyskinesia | 2021-12-23 | criteria provided, single submitter | clinical testing | The p.T1840I variant (also known as c.5519C>T), located in coding exon 32 of the DNAH11 gene, results from a C to T substitution at nucleotide position 5519. The threonine at codon 1840 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is poorly 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. |