Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036740 | SCV000060395 | likely benign | not specified | 2012-07-06 | criteria provided, single submitter | clinical testing | Asp1375Asp in exon 31 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. Asp1375Asp in exon 31 of RYR2 (allele freque ncy = n/a) |
Color Diagnostics, |
RCV003531925 | SCV004360586 | likely benign | Cardiomyopathy | 2021-11-19 | criteria provided, single submitter | clinical testing |