Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000508100 | SCV000604811 | pathogenic | not specified | 2017-03-16 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000518635 | SCV000614471 | pathogenic | not provided | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Molecular Genetics of Inherited Kidney Disorders Laboratory, |
RCV001254257 | SCV001430297 | pathogenic | Autosomal dominant polycystic kidney disease | 2019-01-01 | criteria provided, single submitter | research | |
Gene |
RCV000518635 | SCV003837494 | likely pathogenic | not provided | 2022-08-29 | criteria provided, single submitter | clinical testing | Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31740684, 33437033, 23300259, Kataoka2022[paper]) |