Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000126620 | SCV000170127 | benign | not specified | 2013-04-09 | 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 | RCV002228298 | SCV001006559 | likely benign | Autosomal dominant epilepsy with auditory features | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001701680 | SCV003916625 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | LGI1: BP4, BP7 |
Genome Diagnostics Laboratory, |
RCV001701680 | SCV001928559 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001701680 | SCV001973211 | likely benign | not provided | no assertion criteria provided | clinical testing |