Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000629342 | SCV000750277 | benign | Primary ciliary dyskinesia | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002533167 | SCV003731379 | uncertain significance | Inborn genetic diseases | 2022-05-31 | criteria provided, single submitter | clinical testing | The c.806G>T (p.G269V) alteration is located in exon 4 (coding exon 4) of the DNAH11 gene. This alteration results from a G to T substitution at nucleotide position 806, causing the glycine (G) at amino acid position 269 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |