Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000703682 | SCV000832595 | likely benign | Primary ciliary dyskinesia | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000703682 | SCV002626829 | uncertain significance | Primary ciliary dyskinesia | 2018-06-22 | criteria provided, single submitter | clinical testing | The p.H14Y variant (also known as c.40C>T), located in coding exon 1 of the DNAI1 gene, results from a C to T substitution at nucleotide position 40. The histidine at codon 14 is replaced by tyrosine, 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. |
Natera, |
RCV000703682 | SCV001458359 | uncertain significance | Primary ciliary dyskinesia | 2019-10-28 | no assertion criteria provided | clinical testing |