Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000818338 | SCV000958946 | benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852999 | SCV000995753 | likely benign | Cardiomyopathy | 2017-03-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001557712 | SCV001779523 | uncertain significance | not provided | 2020-11-17 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge Observed in 13/282,796 (0.005%) global alleles in large population cohorts (Lek et al., 2016) In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect Reported in ClinVar but additional evidence is not available (ClinVar Variant ID#661015; Landrum et al., 2016) Identified in conjunction with additional cardiogenetic variants in individuals referred for cardiac genetic testing at GeneDx, but segregation data are limited or absent at this time |
Ambry Genetics | RCV002427033 | SCV002680446 | likely benign | Cardiovascular phenotype | 2023-04-13 | 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. |