Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000543304 | SCV000624129 | likely benign | Primary ciliary dyskinesia | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000543304 | SCV002632153 | uncertain significance | Primary ciliary dyskinesia | 2024-11-10 | criteria provided, single submitter | clinical testing | The c.4334G>A (p.R1445Q) alteration is located in exon 24 (coding exon 24) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 4334, causing the arginine (R) at amino acid position 1445 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |