Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000706301 | SCV000835342 | pathogenic | Hypertrophic cardiomyopathy | 2018-05-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547). This variant has not been reported in the literature in individuals with MYBPC3-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala100Glyfs*56) in the MYBPC3 gene. It is expected to result in an absent or disrupted protein product. |
CHEO Genetics Diagnostic Laboratory, |
RCV000769364 | SCV000900752 | likely pathogenic | Cardiomyopathy | 2016-05-03 | criteria provided, single submitter | clinical testing |