Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040331 | SCV000064022 | likely benign | not specified | 2012-07-30 | criteria provided, single submitter | clinical testing | Asp14842Asp in exon 223 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. Asp14842Asp in exon 233 of TTN (allele fre quency= n/a) |