Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000618726 | SCV000736594 | likely benign | Cardiovascular phenotype | 2016-05-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Color Diagnostics, |
RCV001189441 | SCV001356733 | likely benign | Cardiomyopathy | 2019-04-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001419243 | SCV001621491 | likely benign | Hypertrophic cardiomyopathy | 2022-10-08 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002506149 | SCV002810235 | likely benign | Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy | 2021-08-19 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV001189441 | SCV004824615 | likely benign | Cardiomyopathy | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV001701014 | SCV001921366 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000470136 | SCV001930961 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000470136 | SCV001955102 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000470136 | SCV001966877 | likely benign | not provided | no assertion criteria provided | clinical testing |