Total submissions: 10
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000252526 | SCV000320010 | likely benign | Cardiovascular phenotype | 2017-07-31 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Other strong data supporting benign classification |
| Athena Diagnostics Inc | RCV000586186 | SCV000842846 | benign | not provided | 2017-12-21 | criteria provided, single submitter | clinical testing | |
| Biesecker Lab/Clinical Genomics Section, |
RCV000035561 | SCV000054762 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
| Color | RCV000771353 | SCV000903642 | likely benign | Cardiomyopathy | 2018-03-05 | criteria provided, single submitter | clinical testing | |
| DNA and Cytogenetics Diagnostics Unit, |
RCV000625353 | SCV000745033 | likely benign | Familial hypertrophic cardiomyopathy 4 | 2017-07-12 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000035561 | SCV000207993 | likely benign | not specified | 2017-11-28 | 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. |
| Integrated Genetics/Laboratory Corporation of America | RCV000586186 | SCV000696327 | likely benign | not provided | 2017-03-20 | criteria provided, single submitter | clinical testing | Variant summary: The MYBPC3 c.3106C>T (p.Arg1036Cys) variant involves the alteration of a conserved nucleotide and 4/4 in silico tools (Polyphen not captured here due to not functioning at time of scoring) predict a damaging outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 62/120392 (1/1941), predominantly in the African cohort, 58/9778 (1/168), which does exceed the estimated maximal expected allele frequency for a pathogenic MYBPC3 variant of 1/999. Therefore, suggesting this is likely a benign polymorphism found primarily in population(s) of African origin. Multiple publications have cited the variant in affected individuals, however, with limited information (ie, co-occurrence and cosegregation data) and predominantly classifying the variant as "likely benign." In addition, multiple clinical diagnostic laboratories have classified the variant as "likely benign/benign." Therefore, the variant of interest has been classified as "likely benign." |
| Invitae | RCV000230224 | SCV000284238 | benign | Hypertrophic cardiomyopathy | 2017-08-15 | criteria provided, single submitter | clinical testing | |
| Laboratory for Molecular Medicine, |
RCV000035561 | SCV000059211 | likely benign | not specified | 2015-10-22 | criteria provided, single submitter | clinical testing | p.Arg1036Cys in exon 29 of MYBPC3: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence and has been identified in 0.6% (58/9778) of African chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs61729664). |
| Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000035561 | SCV000740364 | likely benign | not specified | 2017-03-30 | criteria provided, single submitter | clinical testing |