Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224547 | SCV000281457 | likely benign | not provided | 2016-05-04 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Gene |
RCV000602333 | SCV000730789 | benign | not specified | 2017-04-28 | 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. |
Invitae | RCV000224547 | SCV001034617 | benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003977636 | SCV004794020 | benign | MGME1-related condition | 2019-06-17 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |