Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036698 | SCV000060353 | likely benign | not specified | 2012-09-19 | criteria provided, single submitter | clinical testing | Leu482Leu in exon 15 of RYR2: 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. Leu482Leu in exon 15 of RYR2 (allele frequenc y = n/a) |