Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000114180 | SCV000147732 | likely pathogenic | Meckel-Gruber syndrome | 2013-10-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002284363 | SCV002574631 | likely pathogenic | not provided | 2022-09-09 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |