Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000127847 | SCV000171429 | benign | not specified | 2014-03-12 | 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. |
Color Diagnostics, |
RCV000777981 | SCV000914086 | likely benign | Cardiomyopathy | 2018-10-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002515914 | SCV001002533 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001311695 | SCV001501973 | likely benign | not provided | 2021-01-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000127847 | SCV002041603 | benign | not specified | 2021-11-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415618 | SCV002680367 | 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. |
Diagnostic Laboratory, |
RCV001311695 | SCV001741735 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000127847 | SCV001924801 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001311695 | SCV001953725 | likely benign | not provided | no assertion criteria provided | clinical testing |