Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000485397 | SCV000572854 | pathogenic | not provided | 2022-02-01 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002496875 | SCV002787236 | likely pathogenic | Polycystic kidney disease 4 | 2021-09-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003409665 | SCV004113499 | pathogenic | PKHD1-related condition | 2023-02-15 | criteria provided, single submitter | clinical testing | The PKHD1 c.2299_2306delinsTCTG variant is predicted to result in a frameshift and premature protein termination (p.Thr767Serfs*9). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in PKHD1 are expected to be pathogenic. This variant is interpreted as pathogenic. |
Baylor Genetics | RCV002496875 | SCV004204633 | likely pathogenic | Polycystic kidney disease 4 | 2023-06-13 | criteria provided, single submitter | clinical testing |