Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156143 | SCV000205858 | likely benign | not specified | 2013-10-03 | criteria provided, single submitter | clinical testing | 1170+15A>G in intron 13 of RYR2: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. 11 70+15A>G in intron 13 of RYR2 (allele frequency = n/a) |