Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035657 | SCV000059308 | likely benign | not specified | 2013-02-07 | criteria provided, single submitter | clinical testing | 654+12G>A in intron 5 of MYBPC3: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. 65 4+12G>A in intron 5 of MYBPC3 (allele frequency = n/a) |
Gene |
RCV001534123 | SCV001751021 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054567 | SCV002390319 | likely benign | Hypertrophic cardiomyopathy | 2023-10-23 | criteria provided, single submitter | clinical testing |