Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036651 | SCV000060306 | likely benign | not specified | 2012-12-06 | criteria provided, single submitter | clinical testing | Leu3534Leu in exon 74 of RYR2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. Leu3534Leu in exon 74 of RYR2 (allele frequ ency = n/a) |