Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156567 | SCV000206286 | likely benign | not specified | 2014-06-19 | criteria provided, single submitter | clinical testing | Pro1783Pro in exon 33 of PCDH15: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. |