Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001004200 | SCV001163040 | likely pathogenic | Autosomal recessive polycystic kidney disease | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001786423 | SCV002028864 | likely pathogenic | not provided | 2023-01-20 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 12925574, 16523049, 16133180, 11919560) |
Baylor Genetics | RCV003467571 | SCV004204544 | likely pathogenic | Polycystic kidney disease 4 | 2023-09-14 | criteria provided, single submitter | clinical testing |