Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000202917 | SCV000258110 | likely benign | not specified | 2015-07-17 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000418598 | SCV000511385 | likely benign | not provided | 2017-01-09 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Gene |
RCV000202917 | SCV000729994 | likely benign | not specified | 2017-06-01 | 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 | RCV000418598 | SCV001096061 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000418598 | SCV001247629 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | ATP8A2: BP4, BP7, BS2 |