Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037084 | SCV000060741 | likely benign | not specified | 2013-02-18 | criteria provided, single submitter | clinical testing | p.Val984Val in TJP2: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the sp lice consensus sequence. |