Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041462 | SCV000065157 | likely benign | not specified | 2015-11-05 | criteria provided, single submitter | clinical testing | p.Ser502Ser in exon 14 of OTOF: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (23/11558) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org;dbSNP rs199713499). |
Gene |
RCV000905714 | SCV000727118 | likely benign | not provided | 2021-05-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000905714 | SCV001050307 | benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing |