Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221180 | SCV000269498 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Pro1129Leu in exon 27 of OTOG: This variant is not expected to have clinical sig nificance because it has been identified in 15.5% (30/194) of Luhya (Kenyan) chr omosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nl m.nih.gov/projects/SNP; dbSNP rs7936354). |
Gene |
RCV000221180 | SCV000717795 | benign | not specified | 2017-10-05 | 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. |
Athena Diagnostics Inc | RCV000712483 | SCV000842984 | benign | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000712483 | SCV001113116 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing |