Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000168851 | SCV000170556 | benign | not specified | 2013-02-20 | 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. |
Ambry Genetics | RCV000254444 | SCV000319209 | likely benign | Cardiovascular phenotype | 2019-01-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 | RCV000471055 | SCV000557981 | likely benign | Hypertrophic cardiomyopathy | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001188101 | SCV001355071 | benign | Cardiomyopathy | 2018-12-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001528926 | SCV002063117 | likely benign | not provided | 2021-11-01 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV001188101 | SCV004821391 | benign | Cardiomyopathy | 2024-02-05 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV001528926 | SCV001741507 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000168851 | SCV001920119 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001528926 | SCV001929502 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001528926 | SCV001955204 | likely benign | not provided | no assertion criteria provided | clinical testing |