Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000432118 | SCV000513453 | benign | not specified | 2016-06-16 | 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. |
Center for Pediatric Genomic Medicine, |
RCV000513878 | SCV000610471 | likely benign | not provided | 2017-02-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000513878 | SCV001093380 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000513878 | SCV001799634 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000432118 | SCV001975698 | benign | not specified | no assertion criteria provided | clinical testing |