Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000202763 | SCV000257886 | uncertain significance | not specified | 2015-07-17 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000202763 | SCV000270693 | likely benign | not specified | 2015-04-24 | criteria provided, single submitter | clinical testing | p.Arg2838Cys in exon 54 of OTOG: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (20/5018) of European chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs191662816). |