Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152349 | SCV000201259 | likely benign | not specified | 2013-12-06 | criteria provided, single submitter | clinical testing | Val12951Val in exon 199 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. Val12951Val in exon 199 of TTN (allele fre quency = n/a) |