Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000251605 | SCV000307356 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
EGL Genetic Diagnostics, |
RCV000251605 | SCV000331865 | benign | not specified | 2015-12-28 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000514932 | SCV000609925 | uncertain significance | not provided | 2017-05-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081407 | SCV000640800 | likely benign | Nemaline myopathy 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000251605 | SCV000724988 | likely benign | not specified | 2017-11-27 | 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. |