Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000437327 | SCV000521829 | likely benign | not specified | 2016-08-22 | 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. |
Invitae | RCV000552717 | SCV000641364 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001184755 | SCV001350815 | likely benign | Cardiomyopathy | 2018-12-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000437327 | SCV001482161 | likely benign | not specified | 2021-02-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001311702 | SCV001501981 | likely benign | not provided | 2021-01-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379322 | SCV002691251 | likely benign | Cardiovascular phenotype | 2021-01-29 | 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. |