Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040245 | SCV000063936 | likely benign | not specified | 2012-12-21 | criteria provided, single submitter | clinical testing | Pro12112Pro in exon 187 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Pro12112Pro in exon 187 of TTN (allele freq uency = n/a) |