Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000680684 | SCV000808128 | benign | not provided | 2018-06-14 | 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- |
RCV001549227 | SCV001769338 | benign | Baraitser-winter syndrome 2 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001549228 | SCV001769339 | benign | Autosomal dominant nonsyndromic hearing loss 20 | 2021-07-14 | criteria provided, single submitter | clinical testing |