Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000629455 | SCV000750398 | benign | Primary ciliary dyskinesia | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002533170 | SCV003757085 | uncertain significance | Inborn genetic diseases | 2022-12-19 | criteria provided, single submitter | clinical testing | The c.11882A>G (p.N3961S) alteration is located in exon 73 (coding exon 73) of the DNAH11 gene. This alteration results from a A to G substitution at nucleotide position 11882, causing the asparagine (N) at amino acid position 3961 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |