Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000159180 | SCV000209126 | uncertain significance | not provided | 2023-06-12 | criteria provided, single submitter | clinical testing | Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
ARUP Laboratories, |
RCV000156973 | SCV000206695 | uncertain significance | Noonan syndrome | 2012-06-15 | no assertion criteria provided | clinical testing |