Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000181166 | SCV000233443 | benign | not specified | 2016-08-29 | 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. |
Laboratory for Molecular Medicine, |
RCV000181166 | SCV000270162 | likely benign | not specified | 2015-04-23 | criteria provided, single submitter | clinical testing | p.Arg833Cys in exon 15 of DSC2: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (43/8636) of East Asian chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs142410803). Arginine (Arg) at position 833 is not conserved in mammals or evolutionarily distant species and 1 mammal (cape elephant shrew) carries a c ysteine (Cys) at this position, further supporting that this change may be toler ated. |
Invitae | RCV000461186 | SCV000561712 | benign | Arrhythmogenic right ventricular dysplasia 11 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000770529 | SCV000901976 | uncertain significance | Cardiomyopathy | 2015-10-23 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000770529 | SCV000913482 | likely benign | Cardiomyopathy | 2018-04-19 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852735 | SCV000995450 | likely benign | Hypertrophic cardiomyopathy | 2018-05-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426764 | SCV002741857 | likely benign | Cardiovascular phenotype | 2018-01-23 | 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. |
Blueprint Genetics | RCV000157175 | SCV000206899 | uncertain significance | Arrhythmogenic right ventricular cardiomyopathy | 2014-03-17 | no assertion criteria provided | clinical testing |