Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000437296 | SCV000530674 | likely benign | not specified | 2016-08-05 | 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. |
Ce |
RCV003389805 | SCV004130204 | benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | SPTLC2: BS1, BS2 |