Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732558 | SCV000860526 | uncertain significance | not provided | 2018-03-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002485921 | SCV002785134 | uncertain significance | Polycystic kidney disease 4 | 2021-07-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892645 | SCV004717147 | uncertain significance | PKHD1-related disorder | 2024-01-19 | criteria provided, single submitter | clinical testing | The PKHD1 c.11378C>T variant is predicted to result in the amino acid substitution p.Ala3793Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |