Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV001290374 | SCV001478428 | uncertain significance | Spermatogenic failure 46 | 2021-01-19 | criteria provided, single submitter | clinical testing | This DNAH8 variant is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. One bioinformatic tool queried predicts that this substitution would be tolerated, and the lysine residue at this position is highly evolutionarily conserved across most species assessed. We consider the clinical significance of c.2970A>T to be uncertain at this time. |