Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000810306 | SCV000950500 | likely benign | Primary ciliary dyskinesia | 2024-01-27 | criteria provided, single submitter | clinical testing | |
| Johns Hopkins Genomics, |
RCV001250557 | SCV001425391 | uncertain significance | Primary ciliary dyskinesia 3 | 2020-04-02 | criteria provided, single submitter | clinical testing | This variant has been previously reported in a patient with primary ciliary dyskinesia. DNAH5 c.10789G>T (rs368959723) is rare (<0.1%) in a large population dataset (gnomAD: 50/282424 total alleles; 0.018%; 1 homozygote). A single submitter in ClinVar classifies this variant as a variant of uncertain clinical significance. Of three bioinformatics tools queried, two predict that the substitution would be tolerated, while one predicts that it would be possibly damaging. The alanine residue at this position is highly evolutionarily conserved across all species assessed. Due to insufficient evidence, we consider the clinical significance of c.10789G>T to be uncertain at this time. |
| Ambry Genetics | RCV000810306 | SCV002725668 | likely benign | Primary ciliary dyskinesia | 2022-07-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Natera, |
RCV000810306 | SCV002078444 | uncertain significance | Primary ciliary dyskinesia | 2020-02-26 | no assertion criteria provided | clinical testing |