Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001304980 | SCV001494287 | benign | Primary ciliary dyskinesia | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001304980 | SCV002641153 | uncertain significance | Primary ciliary dyskinesia | 2022-05-24 | criteria provided, single submitter | clinical testing | The p.K1642N variant (also known as c.4926A>C), located in coding exon 28 of the DNAH11 gene, results from an A to C substitution at nucleotide position 4926. The lysine at codon 1642 is replaced by asparagine, an amino acid with 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. |