Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000251097 | SCV000307430 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV002519901 | SCV003706918 | uncertain significance | Inborn genetic diseases | 2022-01-27 | criteria provided, single submitter | clinical testing | The c.11254G>A (p.D3752N) alteration is located in exon 69 (coding exon 69) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 11254, causing the aspartic acid (D) at amino acid position 3752 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Invitae | RCV003650555 | SCV004561831 | benign | Primary ciliary dyskinesia | 2023-09-24 | criteria provided, single submitter | clinical testing |