Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002146475 | SCV002465917 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003916325 | SCV004730067 | uncertain significance | PKHD1-related disorder | 2024-01-18 | criteria provided, single submitter | clinical testing | The PKHD1 c.4558G>A variant is predicted to result in the amino acid substitution p.Val1520Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51890050-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |