Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221042 | SCV000269472 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | 1032+9C>A in intron 8 of OTOG: This variant is not expected to have clinical sig nificance because it is not located within the conserved splice consensus sequen ce. It has been identified in 1.5% (11/758) of European chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/projects/SN P; dbSNP rs147843540). |
Gene |
RCV000221042 | SCV000718785 | likely benign | not specified | 2017-11-03 | 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. |
Invitae | RCV000957895 | SCV001104716 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000957895 | SCV001144830 | benign | not provided | 2019-07-26 | criteria provided, single submitter | clinical testing |