Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome- |
RCV001580763 | SCV001810571 | uncertain significance | Polycystic kidney disease 4 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003227980 | SCV003924885 | uncertain significance | not provided | 2022-11-11 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003426180 | SCV004117764 | uncertain significance | PKHD1-related disorder | 2023-09-29 | criteria provided, single submitter | clinical testing | The PKHD1 c.1218G>T variant is predicted to result in the amino acid substitution p.Glu406Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51924741-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |