Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222561 | SCV000269524 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Arg2524His in exon 44 of OTOG: This variant is not expected to have clinical sig nificance because it has been identified in 13.6% (24/176) of Yoruba (Nigerian) chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi .nlm.nih.gov/projects/SNP; dbSNP rs114242958). |
Gene |
RCV000222561 | SCV000723946 | benign | not specified | 2017-10-23 | 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 | RCV000956914 | SCV001103706 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000956914 | SCV001144848 | benign | not provided | 2018-08-31 | criteria provided, single submitter | clinical testing |