Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001040225 | SCV001203786 | benign | Primary ciliary dyskinesia | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002551467 | SCV003708922 | uncertain significance | Inborn genetic diseases | 2022-10-26 | criteria provided, single submitter | clinical testing | The c.8336T>C (p.L2779P) alteration is located in exon 51 (coding exon 51) of the DNAH11 gene. This alteration results from a T to C substitution at nucleotide position 8336, causing the leucine (L) at amino acid position 2779 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |