Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728084 | SCV000855616 | uncertain significance | not provided | 2017-07-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000728084 | SCV001997122 | uncertain significance | not provided | 2019-12-18 | criteria provided, single submitter | clinical testing | Observed in a patient with infantile cholestasis and congenital hepatic fibrosis in published literature (Herbst et al., 2015); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 25771912) |
Fulgent Genetics, |
RCV002499343 | SCV002791114 | uncertain significance | Polycystic kidney disease 4 | 2022-03-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003918185 | SCV004735433 | uncertain significance | PKHD1-related condition | 2023-12-27 | criteria provided, single submitter | clinical testing | The PKHD1 c.2330C>T variant is predicted to result in the amino acid substitution p.Thr777Met. This variant has been reported in a patient with cholestasis, but the significance is unknown (Herbst et al. 2015. PubMed ID: 25771912). This variant is reported in 0.016% of alleles in individuals of South 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. |