Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000124100 | SCV000050808 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Gene |
RCV000124100 | SCV000167509 | benign | not specified | 2011-07-14 | 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. |
Genome- |
RCV001554656 | SCV001775928 | benign | Timothy syndrome | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000124100 | SCV001978666 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000124100 | SCV001978858 | benign | not specified | no assertion criteria provided | clinical testing |