Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003911657 | SCV004719784 | uncertain significance | PKHD1-related disorder | 2023-12-18 | criteria provided, single submitter | clinical testing | The PKHD1 c.52+10A>G variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51949670-T-C). However, the use of computer prediction programs is not equivalent to functional evidence, and therefore the clinical significance of this variant is uncertain. |