Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000620868 | SCV000737514 | likely benign | Cardiovascular phenotype | 2018-10-22 | 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. |
Invitae | RCV001037448 | SCV001200860 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-09-26 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001189653 | SCV001356984 | likely benign | Cardiomyopathy | 2019-03-15 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV000157190 | SCV000206914 | uncertain significance | Primary dilated cardiomyopathy | 2014-11-25 | no assertion criteria provided | clinical testing |