Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038761 | SCV000062439 | benign | not specified | 2007-12-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080146 | SCV000262096 | benign | Myofibrillar myopathy 4 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588670 | SCV000698756 | benign | not provided | 2016-01-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619480 | SCV000736371 | benign | Cardiovascular phenotype | 2016-01-11 | 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, |
RCV000770145 | SCV000901571 | benign | Cardiomyopathy | 2016-04-05 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000588670 | SCV001471766 | benign | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000588670 | SCV001892236 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000038761 | SCV001924522 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000038761 | SCV001958280 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000038761 | SCV001969178 | benign | not specified | no assertion criteria provided | clinical testing |