Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000622375 | SCV000742693 | likely pathogenic | Inborn genetic diseases | 2017-07-20 | criteria provided, single submitter | clinical testing | |
Laboratory of Molecular Genetics |
RCV000782092 | SCV000920563 | pathogenic | not provided | 2019-02-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000782092 | SCV001150784 | likely pathogenic | not provided | 2019-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000782092 | SCV001873773 | pathogenic | not provided | 2022-09-19 | criteria provided, single submitter | clinical testing | Not observed 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; This variant is associated with the following publications: (PMID: 27311832) |