Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040658 | SCV000064349 | likely benign | not specified | 2012-04-17 | criteria provided, single submitter | clinical testing | Lys24286Lys in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence. Lys24286Lys in exon 275 of TTN (allele f requency = n/a) |