Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV004534556 | SCV004715941 | uncertain significance | KAT6B-related disorder | 2023-11-22 | no assertion criteria provided | clinical testing | The KAT6B c.2065A>G variant is predicted to result in the amino acid substitution p.Thr689Ala. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |