Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000425299 | SCV000511294 | uncertain significance | not provided | 2016-06-16 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Gene |
RCV000486312 | SCV000568094 | benign | not specified | 2018-02-22 | 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 | RCV000425299 | SCV001022668 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000425299 | SCV004158634 | benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | ERMARD: BS1, BS2 |
Laboratory of Diagnostic Genome Analysis, |
RCV000425299 | SCV002035670 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000425299 | SCV002038208 | likely benign | not provided | no assertion criteria provided | clinical testing |