Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003397482 | SCV004103170 | uncertain significance | PKD1-related disorder | 2023-08-14 | criteria provided, single submitter | clinical testing | The PKD1 c.11099_11101dupGTC variant is predicted to result in an in-frame duplication (p.Arg3700dup). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), 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. |