Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003912306 | SCV004725029 | pathogenic | PKHD1-related disorder | 2024-02-15 | criteria provided, single submitter | clinical testing | The PKHD1 c.7275delT variant is predicted to result in a frameshift and premature protein termination (p.Phe2425Leufs*43). This variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Truncating variants in PKHD1 are expected to be pathogenic. This variant is interpreted as pathogenic. |