Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221326 | SCV000270637 | likely benign | not specified | 2015-07-30 | criteria provided, single submitter | clinical testing | p.Asp840Asp in Exon 21 of OTOF: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 11/ 57550 of Europe an (Non-Finnish) chromosomes by the Exome Aggregation Consortium (ExAC, http://e xac.broadinstitute.org/; dbSNP rs147061068). |
Invitae | RCV000896049 | SCV001040122 | likely benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing |