Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004906633 | SCV005578203 | uncertain significance | not specified | 2024-07-02 | criteria provided, single submitter | clinical testing | The c.10447G>A (p.D3483N) alteration is located in exon 62 (coding exon 62) of the DNAH10 gene. This alteration results from a G to A substitution at nucleotide position 10447, causing the aspartic acid (D) at amino acid position 3483 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |