Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039853 | SCV000063544 | likely benign | not specified | 2012-02-07 | criteria provided, single submitter | clinical testing | Ile3479Ile in exon 46 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Ile3479Ile in exon 46 of TTN (allele frequenc y = n/a) |