Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041119 | SCV000064810 | benign | not specified | 2011-10-12 | criteria provided, single submitter | clinical testing | Silent variant: classified as benign based on population frequency of >1% |
Gene |
RCV000041119 | SCV000169543 | benign | not specified | 2014-01-09 | 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 | RCV000226302 | SCV000286429 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001529174 | SCV001159517 | benign | not provided | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000041119 | SCV001474959 | benign | not specified | 2019-11-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839873 | SCV002100893 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839874 | SCV002100894 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839875 | SCV002100895 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839872 | SCV002100897 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV001529174 | SCV001742201 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001529174 | SCV001798267 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000041119 | SCV001922873 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000041119 | SCV001953615 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000041119 | SCV001973675 | benign | not specified | no assertion criteria provided | clinical testing |