Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001775946 | SCV002013001 | uncertain significance | not provided | 2019-10-01 | 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; Reported previously in a male who presented with rhabdomyolysis; however further information such as functional studies or family segregation data was not specified in this report (Vivante et al., 2017); This variant is associated with the following publications: (PMID: 28779239) |
Yale Center for Mendelian Genomics, |
RCV000662288 | SCV000784616 | likely pathogenic | Rhabdomyolysis | 2017-08-05 | no assertion criteria provided | literature only |