Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002780059 | SCV003026064 | benign | Adams-Oliver syndrome 5 | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003149041 | SCV003837302 | uncertain significance | not provided | 2023-03-02 | criteria provided, single submitter | clinical testing | Identified as a variant of uncertain significance in one member of a family with sudden unexplained death (Lin et al., 2017); however, this individual had several other variants of uncertain significance, and an RYR2 variant thought to be the cause of the familial phenotype.; 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: 29132927) |