Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221227 | SCV000271729 | uncertain significance | not specified | 2015-03-11 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Arg1509Lys va riant in DSP has not been previously reported in individuals with cardiomyopathy , but has been identified in 0.1% (19/16428) of South Asian chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs57706 1462). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, while the cl inical significance of the p.Arg1509Lys variant is uncertain, its frequency sugg ests that it is more likely to be benign. |
Invitae | RCV000641844 | SCV000763494 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000771205 | SCV000903210 | likely benign | Cardiomyopathy | 2020-04-29 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000771205 | SCV001332687 | benign | Cardiomyopathy | 2018-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001555477 | SCV001776909 | likely benign | not provided | 2020-01-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002327087 | SCV002633431 | likely benign | Cardiovascular phenotype | 2020-06-24 | 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. |