Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004075184 | SCV003532683 | uncertain significance | not specified | 2024-01-04 | criteria provided, single submitter | clinical testing | The c.10258G>A (p.V3420I) alteration is located in exon 61 (coding exon 61) of the DNAH10 gene. This alteration results from a G to A substitution at nucleotide position 10258, causing the valine (V) at amino acid position 3420 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |