Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004609017 | SCV005109587 | uncertain significance | not specified | 2024-04-06 | criteria provided, single submitter | clinical testing | The c.9737G>A (p.G3246D) alteration is located in exon 58 (coding exon 58) of the DNAH10 gene. This alteration results from a G to A substitution at nucleotide position 9737, causing the glycine (G) at amino acid position 3246 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |