Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156885 | SCV000206606 | likely benign | not specified | 2014-11-05 | criteria provided, single submitter | clinical testing | c.2308+12C>T in intron 23 of MYBPC3: This variant is not expected to have clinic al significance because it is not located within the splice consensus sequence. It has been identified in 2/16,584 South Asian chromosomes by the Exome Aggregat ion Consortium (ExAC; http://exac.broadinstitute.org). |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000625308 | SCV000744842 | benign | Hypertrophic cardiomyopathy 4 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002515039 | SCV002943620 | likely benign | Hypertrophic cardiomyopathy | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000156885 | SCV001921368 | benign | not specified | no assertion criteria provided | clinical testing |