Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215269 | SCV000269496 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | 3325-8C>G in intron 26 of OTOG: This variant is not expected to have clinical si gnificance because it has been identified in 3.2% (6/186) of Finnish chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.go v/projects/SNP; dbSNP rs12792504). |
Gene |
RCV000215269 | SCV000717127 | likely benign | not specified | 2018-02-23 | 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 | RCV000959169 | SCV001106059 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000959169 | SCV001144839 | benign | not provided | 2019-02-27 | criteria provided, single submitter | clinical testing |