Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000226863 | SCV000291935 | likely pathogenic | not provided | 2022-11-07 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Also known as V157V; This variant is associated with the following publications: (PMID: 14962902, 23463630, 17053055, 10581030) |
ARUP Laboratories, |
RCV000226863 | SCV000603441 | uncertain significance | not provided | 2017-05-01 | criteria provided, single submitter | clinical testing |