Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035492 | SCV000059142 | likely benign | not specified | 2012-01-20 | criteria provided, single submitter | clinical testing | Leu829Leu in exon 25 of MYBPC3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 3/6946 European Amer ican chromosomes by the NHLBI Exome Sequencing Project in a broad population (ht tp://evs.gs.washington.edu/EVS). Leu829Leu in exon 25 of MYBPC3 (NHLBI Exome Se quencing Project, allele frequency = 3/6946) |
Gene |
RCV000035492 | SCV000170437 | benign | not specified | 2014-06-23 | 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. |
Invitae | RCV000468991 | SCV000558158 | likely benign | Hypertrophic cardiomyopathy | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621606 | SCV000740100 | likely benign | Cardiovascular phenotype | 2016-12-18 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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, |
RCV001182248 | SCV001347636 | likely benign | Cardiomyopathy | 2018-10-30 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001182248 | SCV002042168 | likely benign | Cardiomyopathy | 2019-07-02 | criteria provided, single submitter | clinical testing |