Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667386 | SCV000791821 | uncertain significance | Autosomal recessive polycystic kidney disease | 2017-05-24 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000733076 | SCV000861095 | uncertain significance | not provided | 2018-04-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000733076 | SCV003194934 | likely pathogenic | not provided | 2023-05-17 | criteria provided, single submitter | clinical testing | Reported without a second variant in a patient with polycystic kidney disease in published literature (Furu et al., 2003); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 14741187, 12874454) |