Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724641 | SCV000331808 | uncertain significance | not provided | 2015-09-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000335355 | SCV000535395 | likely benign | not specified | 2016-12-27 | 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 |
RCV001475458 | SCV001679648 | likely benign | Bethlem myopathy 1A | 2023-12-01 | criteria provided, single submitter | clinical testing |