Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000421711 | SCV000519658 | benign | not specified | 2016-01-08 | 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- |
RCV001544022 | SCV001762987 | benign | Pontocerebellar hypoplasia type 2E | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002062365 | SCV002346560 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV002062365 | SCV005249110 | benign | not provided | criteria provided, single submitter | not provided |