Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543160 | SCV000624189 | likely benign | Primary ciliary dyskinesia | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002527664 | SCV003630397 | uncertain significance | Inborn genetic diseases | 2022-07-13 | criteria provided, single submitter | clinical testing | The c.9884G>A (p.G3295D) alteration is located in exon 60 (coding exon 60) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 9884, causing the glycine (G) at amino acid position 3295 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |