Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000038744 | SCV000051560 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000038744 | SCV000062422 | benign | not specified | 2008-04-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000038744 | SCV000170116 | benign | not specified | 2011-07-05 | 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. |
Prevention |
RCV000038744 | SCV000306362 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000471539 | SCV000557540 | benign | Myofibrillar myopathy 4 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621020 | SCV000735442 | benign | Cardiovascular phenotype | 2015-05-27 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000030117 | SCV000901732 | benign | Cardiomyopathy | 2016-04-11 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811210 | SCV001159683 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030117 | SCV000052772 | benign | Cardiomyopathy | 2013-12-31 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV000038744 | SCV001925645 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000038744 | SCV001930135 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000038744 | SCV001951839 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000038744 | SCV001965623 | benign | not specified | no assertion criteria provided | clinical testing |