Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000203962 | SCV000260190 | benign | Primary ciliary dyskinesia | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000203962 | SCV004056459 | uncertain significance | Primary ciliary dyskinesia | 2023-08-11 | criteria provided, single submitter | clinical testing | The p.W1410C variant (also known as c.4230G>T), located in coding exon 23 of the DNAH11 gene, results from a G to T substitution at nucleotide position 4230. The tryptophan at codon 1410 is replaced by cysteine, an amino acid with highly dissimilar 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. |