Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035468 | SCV000059116 | uncertain significance | not specified | 2015-02-02 | criteria provided, single submitter | clinical testing | The c.2149-8C>G variant in MYBPC3 has been previously identified by our laborato ry in 3 families with HCM; however, two affected siblings from one family carrie d a clinically significant variant in another gene that was sufficient to explai n their disease. The c.2149-8C>G variant has also been identified in 4/11426 Sou th Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; rs397515950). This variant is located in the 3' splice region. C omputational tools do not suggest an impact to splicing. However, this informati on is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.2149-8C>G variant is uncertain. |
Gene |
RCV000035468 | SCV000170436 | benign | not specified | 2011-07-12 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color Diagnostics, |
RCV001188892 | SCV001356065 | likely benign | Cardiomyopathy | 2018-10-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001397441 | SCV001599188 | likely benign | Hypertrophic cardiomyopathy | 2023-09-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003944890 | SCV004763656 | likely benign | MYBPC3-related condition | 2020-09-18 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |