Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000790802 | SCV000229341 | pathogenic | not provided | 2014-06-11 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000177479 | SCV000798136 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2018-02-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000177479 | SCV002227724 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-12-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser1177Leufs*13) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). This variant is present in population databases (rs797044713, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 196636). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003468862 | SCV004204660 | pathogenic | Polycystic kidney disease 4 | 2023-05-13 | criteria provided, single submitter | clinical testing |