Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000252748 | SCV000319724 | likely benign | Cardiovascular phenotype | 2015-05-20 | 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 | RCV000553301 | SCV000623875 | likely benign | Hypertrophic cardiomyopathy | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000614550 | SCV000743103 | likely benign | Hypertrophic cardiomyopathy 17 | 2017-11-09 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000614550 | SCV000744112 | likely benign | Hypertrophic cardiomyopathy 17 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001594927 | SCV001828008 | benign | not provided | 2015-09-25 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001594927 | SCV004562704 | likely benign | not provided | 2023-10-10 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000614550 | SCV000734072 | likely benign | Hypertrophic cardiomyopathy 17 | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001698664 | SCV001917119 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001594927 | SCV001958796 | likely benign | not provided | no assertion criteria provided | clinical testing |