Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003896399 | SCV004711800 | likely pathogenic | PKHD1-related disorder | 2024-01-04 | criteria provided, single submitter | clinical testing | The PKHD1 c.7050_7053delCCAA variant is predicted to result in a frameshift and premature protein termination (p.Asn2350Lysfs*64). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in PKHD1 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |