Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics |
RCV003329150 | SCV004035933 | pathogenic | Al Kaissi syndrome | criteria provided, single submitter | clinical testing | ||
Gene |
RCV005003056 | SCV005628600 | likely pathogenic | not provided | 2024-07-12 | criteria provided, single submitter | clinical testing | Intronic variant directly or indirectly altering the +5 splice site in a gene for which loss of function is a known mechanism of disease, and splice predictors support a deleterious effect; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 36503922) |