Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001753399 | SCV001985428 | uncertain significance | not provided | 2019-12-03 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 16523049, 14741187, 12846734, 27225849, 11919560) |
OMIM | RCV000004326 | SCV000024497 | pathogenic | Autosomal recessive polycystic kidney disease | 2002-03-01 | no assertion criteria provided | literature only |