Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000439185 | SCV000513134 | benign | not specified | 2016-01-04 | 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 | RCV000056916 | SCV001109611 | benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000056916 | SCV001144054 | benign | not provided | 2018-11-21 | criteria provided, single submitter | clinical testing | |
Epithelial Biology; Institute of Medical Biology, |
RCV000056916 | SCV000088029 | not provided | not provided | no assertion provided | not provided | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000056916 | SCV002036487 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000439185 | SCV002038061 | benign | not specified | no assertion criteria provided | clinical testing |