Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000037381 | SCV000055149 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000037381 | SCV000061038 | benign | not specified | 2012-04-13 | criteria provided, single submitter | clinical testing | 35/2000 chr (1000 Genomes project) - MAF=0.016 |
Gene |
RCV000037381 | SCV000170039 | benign | not specified | 2014-03-28 | 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. |
Invitae | RCV000469667 | SCV000556707 | benign | Dilated cardiomyopathy 1JJ | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000469667 | SCV000743161 | benign | Dilated cardiomyopathy 1JJ | 2016-04-11 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000469667 | SCV000744210 | benign | Dilated cardiomyopathy 1JJ | 2015-09-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000469667 | SCV000885644 | benign | Dilated cardiomyopathy 1JJ | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000037381 | SCV004038034 | likely benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000037381 | SCV001917599 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001723614 | SCV001957960 | likely benign | not provided | no assertion criteria provided | clinical testing |