Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000837359 | SCV000979212 | likely benign | not provided | 2018-06-19 | 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. |
ARUP Laboratories, |
RCV000837359 | SCV002050051 | benign | not provided | 2021-07-10 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000119890 | SCV000084020 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |