Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000827616 | SCV000969272 | likely benign | not provided | 2018-05-30 | 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, |
RCV001177460 | SCV001341685 | likely benign | Cardiomyopathy | 2019-01-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001459464 | SCV001663303 | likely benign | Hypertrophic cardiomyopathy | 2021-04-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002409001 | SCV002711154 | likely benign | Cardiovascular phenotype | 2020-08-05 | 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. |
Fulgent Genetics, |
RCV002501160 | SCV002811826 | likely benign | Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 | 2021-11-11 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000827616 | SCV001979609 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000827616 | SCV001980313 | likely benign | not provided | no assertion criteria provided | clinical testing |