Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000609656 | SCV000732037 | likely benign | not specified | 2017-12-22 | criteria provided, single submitter | clinical testing | The p.Ala1316Ala variant in exon 23 of DSP: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is no t located within the splice consensus sequence. ACMG/AMP Criteria applied: BP4; BP7 . |