Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000867351 | SCV001008564 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003392647 | SCV004119935 | uncertain significance | PKHD1-related disorder | 2023-08-05 | criteria provided, single submitter | clinical testing | The PKHD1 c.11318G>T variant is predicted to result in the amino acid substitution p.Arg3773Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.25% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51512909-C-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |