Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001280305 | SCV002697616 | uncertain significance | Primary ciliary dyskinesia | 2021-12-02 | criteria provided, single submitter | clinical testing | The p.E3434G variant (also known as c.10301A>G), located in coding exon 61 of the DNAH5 gene, results from an A to G substitution at nucleotide position 10301. The glutamic acid at codon 3434 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001280305 | SCV001467475 | uncertain significance | Primary ciliary dyskinesia | 2020-08-14 | no assertion criteria provided | clinical testing |