Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037484 | SCV000061142 | uncertain significance | not specified | 2015-04-04 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The c.3860-15T>G va riant in MYH6 has been identified by our laboratory in 1 Pacific Islander adult with HCM. It was also identified in 0.2% (16/8654) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 200883903). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predicti ve enough to determine pathogenicity. In summary, while the clinical significanc e of the c.3860-15T>G variant is uncertain, its frequency suggests that it is mo re likely to be benign. |
Gene |
RCV000037484 | SCV000533154 | likely benign | not specified | 2016-11-01 | 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 | RCV002054663 | SCV002452964 | likely benign | Hypertrophic cardiomyopathy 14 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000037484 | SCV004222937 | benign | not specified | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000037484 | SCV001925471 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001701649 | SCV001931406 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001701649 | SCV001954377 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001701649 | SCV001963925 | likely benign | not provided | no assertion criteria provided | clinical testing |