Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220291 | SCV000270694 | likely benign | not specified | 2016-01-14 | criteria provided, single submitter | clinical testing | p.Leu2894Leu in exon 55 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 5/5654 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs542151771). |
Invitae | RCV000892877 | SCV001036781 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000892877 | SCV001144852 | likely benign | not provided | 2019-07-17 | criteria provided, single submitter | clinical testing |