Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001089129 | SCV000561391 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000757182 | SCV000885318 | likely benign | not provided | 2018-05-14 | criteria provided, single submitter | clinical testing | The p.Ser363Ser variant (rs372598337) does not alter the amino acid sequence of the DSG2 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with cardiomyopathy in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.006 percent (identified on 16 out of 277,022 chromosomes) and has been reported to the ClinVar database as a likely benign variant (Variant ID: 416112). Based on these observations, the p.Ser363Ser variant is likely to be benign. |
Color Diagnostics, |
RCV001178583 | SCV001343059 | likely benign | Cardiomyopathy | 2018-11-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000757182 | SCV001832127 | likely benign | not provided | 2020-05-20 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001778971 | SCV002014819 | likely benign | not specified | 2021-10-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002446894 | SCV002734180 | likely benign | Cardiovascular phenotype | 2020-02-27 | 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. |