Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003402428 | SCV004110611 | uncertain significance | PKHD1-related disorder | 2023-02-23 | criteria provided, single submitter | clinical testing | The PKHD1 c.3334A>G variant is predicted to result in the amino acid substitution p.Thr1112Ala. 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. |