Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000125819 | SCV000169290 | benign | not specified | 2012-10-31 | 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. |
Prevention |
RCV000125819 | SCV000315508 | benign | not specified | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV001528275 | SCV001157431 | benign | not provided | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000125819 | SCV001337892 | benign | not specified | 2020-01-06 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839969 | SCV002100553 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839970 | SCV002100555 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839971 | SCV002100556 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839968 | SCV002100557 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002055611 | SCV002406376 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001528275 | SCV005238610 | benign | not provided | criteria provided, single submitter | not provided | ||
Diagnostic Laboratory, |
RCV001528275 | SCV001739731 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001528275 | SCV001797936 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000125819 | SCV001922487 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000125819 | SCV001957785 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000125819 | SCV001970643 | benign | not specified | no assertion criteria provided | clinical testing |