Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003419058 | SCV004117889 | uncertain significance | PKHD1-related disorder | 2022-11-04 | criteria provided, single submitter | clinical testing | The PKHD1 c.2284G>A variant is predicted to result in the amino acid substitution p.Val762Met. 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. |