Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222078 | SCV000269535 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Lys2842Asn in exon 54 of OTOG: This variant is not expected to have clinical sig nificance because it has been identified in 3.8% (7/186) of Finnish chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov /projects/SNP; dbSNP rs61997203). |
Gene |
RCV000222078 | SCV000717128 | likely benign | not specified | 2017-12-22 | 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 | RCV000958387 | SCV001105224 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000958387 | SCV001144850 | benign | not provided | 2019-03-15 | criteria provided, single submitter | clinical testing | |
Otology & Neurotology- |
RCV001254790 | SCV001167204 | likely benign | Ménière's disease | 2020-01-01 | criteria provided, single submitter | case-control |