Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039486 | SCV000063174 | likely benign | not specified | 2011-02-01 | criteria provided, single submitter | clinical testing | Thr17Ala in exon 1 of MAP2K2: This variant is not likely to have clinical or pat hologic significance as it was identified in one reportedly unaffected individua l by our laboratory. |
Gene |
RCV001564919 | SCV001788161 | uncertain significance | not provided | 2022-11-18 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29493581) |