Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000831328 | SCV000973070 | 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. |
Genome- |
RCV001543975 | SCV001762893 | benign | Salla disease | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001543976 | SCV001762894 | benign | Sialic acid storage disease, severe infantile type | 2021-07-10 | criteria provided, single submitter | clinical testing |