Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000421448 | SCV000226667 | uncertain significance | not provided | 2015-02-12 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000421448 | SCV000510647 | uncertain significance | not provided | 2016-09-08 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Gene |
RCV000175222 | SCV000521922 | likely benign | not specified | 2018-03-01 | 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 | RCV001078661 | SCV000646013 | likely benign | Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c | 2019-12-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001287535 | SCV001474234 | likely benign | none provided | 2019-12-18 | criteria provided, single submitter | clinical testing |