Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152479 | SCV000201606 | likely benign | not specified | 2013-10-21 | criteria provided, single submitter | clinical testing | Asp3290Asp in exon 42 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. Asp3290Asp in exon 42 of TTN (allele frequen cy = n/a) |