Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000833737 | SCV000975501 | benign | not provided | 2018-06-16 | 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- |
RCV001544389 | SCV001763418 | benign | Combined immunodeficiency due to DOCK8 deficiency | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000833737 | SCV005270401 | benign | not provided | criteria provided, single submitter | not provided |