Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150370 | SCV000197500 | uncertain significance | not specified | 2014-10-06 | criteria provided, single submitter | clinical testing | The p.Gly6Arg variant in CSRP3 has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/8586 European American chromoso mes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/) an d in 1.0% (2/200) of Southern Han Chinese chromosomes by the 1000 Genomes Projec t (dbSNP rs185980145). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summa ry, the clinical significance of the p.Gly6Arg variant is uncertain. |
Invitae | RCV001082041 | SCV000541635 | likely benign | Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000623694 | SCV000740562 | uncertain significance | Primary familial hypertrophic cardiomyopathy | 2016-07-28 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000770315 | SCV000901748 | likely benign | Cardiomyopathy | 2018-07-17 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV000788865 | SCV000928137 | uncertain significance | not provided | 2018-12-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000788865 | SCV001996964 | uncertain significance | not provided | 2019-12-16 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar (ClinVar Variant ID# 163013; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31983221) |
Ambry Genetics | RCV002408664 | SCV002715487 | likely benign | Cardiovascular phenotype | 2018-11-01 | 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. |