Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000147546 | SCV000171743 | benign | not specified | 2012-05-10 | 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. |
Genetic Services Laboratory, |
RCV000147546 | SCV000194993 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000147546 | SCV000311456 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Labcorp Genetics |
RCV000473826 | SCV000560942 | benign | Christianson syndrome | 2025-02-03 | criteria provided, single submitter | clinical testing |