Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825212 | SCV000966491 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Thr1073Thr in exon 26 of OTOG: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1/5084 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs780180476). |
Invitae | RCV002536041 | SCV003354195 | likely benign | not provided | 2022-05-08 | criteria provided, single submitter | clinical testing |