Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704885 | SCV000236122 | uncertain significance | not provided | 2020-05-29 | criteria provided, single submitter | clinical testing | Reported in an individual with left ventricular hypertrabeculation, although no additional clinical or segregation data were provided (Miszalski-Jamka et al., 2017); Reported in ClinVar as a variant of uncertain significance or likely benign variant by other clinical laboratories (ClinVar Variant ID# 201919; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28798025) |
Ambry Genetics | RCV000252316 | SCV000318035 | likely benign | Cardiovascular phenotype | 2018-06-29 | 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. |
Labcorp Genetics |
RCV000456476 | SCV000549232 | likely benign | Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000623726 | SCV000740645 | uncertain significance | Primary familial hypertrophic cardiomyopathy | 2016-08-31 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170498 | SCV001333081 | benign | Cardiomyopathy | 2018-09-14 | criteria provided, single submitter | clinical testing |