Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079794 | SCV000111677 | benign | not specified | 2012-08-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000079794 | SCV000308197 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000079794 | SCV000519252 | benign | not specified | 2016-03-28 | 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. |
Labcorp Genetics |
RCV002055139 | SCV002450625 | benign | Bethlem myopathy 1A | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001795093 | SCV005279440 | benign | not provided | criteria provided, single submitter | not provided | ||
Clinical Genetics, |
RCV000079794 | SCV001918518 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000079794 | SCV001955652 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001795093 | SCV002035387 | likely benign | not provided | no assertion criteria provided | clinical testing |