Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037512 | SCV000061170 | benign | not specified | 2015-06-25 | criteria provided, single submitter | clinical testing | c.4651-12A>C in intron 32 of MYH6: This variant is not expected to have clinical significance because it has been identified in 1.4% (139/10018) of African chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g/, dbSNP rs193922653). |
Gene |
RCV000037512 | SCV000515344 | benign | not specified | 2017-01-12 | 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. |
Center for Advanced Laboratory Medicine, |
RCV000852691 | SCV000995401 | benign | Primary dilated cardiomyopathy | 2019-05-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054508 | SCV002407130 | benign | Hypertrophic cardiomyopathy 14 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030308 | SCV000052975 | benign | Cardiomyopathy | 2015-05-26 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV000037512 | SCV001919079 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001701484 | SCV001929555 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000037512 | SCV001958478 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000037512 | SCV001969090 | benign | not specified | no assertion criteria provided | clinical testing |