Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000788157 | SCV000927179 | uncertain significance | not provided | 2017-02-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001856221 | SCV002137688 | benign | Primary ciliary dyskinesia | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001856221 | SCV002664443 | uncertain significance | Primary ciliary dyskinesia | 2015-08-24 | criteria provided, single submitter | clinical testing | The p.P233L variant (also known as c.698C>T), located in coding exon 4 of the DNAH11 gene, results from a C to T substitution at nucleotide position 698. The proline at codon 233 is replaced by leucine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 5900 samples (11800 alleles) with coverage at this position. 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 variant remains unclear. |
Genetics and Molecular Pathology, |
RCV002466582 | SCV002761591 | uncertain significance | Primary ciliary dyskinesia 7 | 2019-08-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002466582 | SCV002782754 | uncertain significance | Primary ciliary dyskinesia 7 | 2021-10-07 | criteria provided, single submitter | clinical testing |