Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172499 | SCV000051350 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Gene |
RCV000172499 | SCV000236487 | likely benign | not provided | 2021-02-09 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23861362) |
Laboratory for Molecular Medicine, |
RCV000183993 | SCV000271183 | likely benign | not specified | 2015-03-11 | criteria provided, single submitter | clinical testing | p.Lys386Arg in exon 9 of VCL: This variant is not expected to have clinical sign ificance it has been identified in 0.5% (90/16464) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s200342284). |
Labcorp Genetics |
RCV001088622 | SCV000559721 | benign | Dilated cardiomyopathy 1W | 2024-01-28 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001171112 | SCV001333791 | benign | Cardiomyopathy | 2018-03-29 | criteria provided, single submitter | clinical testing | |
Genetics and Genomics Program, |
RCV001293124 | SCV001434114 | likely benign | Primary dilated cardiomyopathy | criteria provided, single submitter | research | ||
Ambry Genetics | RCV002354442 | SCV002622826 | likely benign | Cardiovascular phenotype | 2018-10-10 | 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. |
Prevention |
RCV003975249 | SCV004790397 | likely benign | VCL-related disorder | 2023-03-14 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |