Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000494334 | SCV000582938 | pathogenic | not provided | 2023-03-24 | criteria provided, single submitter | clinical testing | 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; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26986877) |
Ambry Genetics | RCV001266705 | SCV001444882 | likely pathogenic | Inborn genetic diseases | 2018-05-18 | criteria provided, single submitter | clinical testing |