Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216975 | SCV000271042 | likely benign | not specified | 2015-03-04 | criteria provided, single submitter | clinical testing | p.Asn16694Asn in exon 244 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. |