Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004237015 | SCV003754257 | uncertain significance | not specified | 2021-06-21 | criteria provided, single submitter | clinical testing | The c.10756A>G (p.K3586E) alteration is located in exon 63 (coding exon 63) of the DNAH10 gene. This alteration results from a A to G substitution at nucleotide position 10756, causing the lysine (K) at amino acid position 3586 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |