Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035628 | SCV000059279 | likely benign | not specified | 2012-04-04 | criteria provided, single submitter | clinical testing | Pro150Pro in exon 4 of MYBPC3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid and is not located in the spli ce consensus sequence. This variant has been identified in 1/6698 European Ameri can chromosomes and 1/3314 African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Pro1 50Pro in exon 4 of MYBPC3 (allele frequency = 1/6698) ** |
Gene |
RCV000035628 | SCV000170446 | benign | not specified | 2014-02-20 | 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. |
Ambry Genetics | RCV000621818 | SCV000737360 | likely benign | Cardiovascular phenotype | 2015-06-16 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Color Diagnostics, |
RCV000777957 | SCV000914056 | likely benign | Cardiomyopathy | 2018-04-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000867684 | SCV001008937 | likely benign | Hypertrophic cardiomyopathy | 2025-01-19 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000035628 | SCV001433213 | likely benign | not specified | 2020-02-13 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000867684 | SCV004834783 | likely benign | Hypertrophic cardiomyopathy | 2024-02-05 | criteria provided, single submitter | clinical testing |