Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001719054 | SCV000728038 | likely benign | not provided | 2020-11-19 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000611442 | SCV000967271 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Arg692Arg in Exon 17 of OTOF: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.1% (4/3690) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs138769870). |
Invitae | RCV001719054 | SCV002403985 | benign | not provided | 2024-01-10 | criteria provided, single submitter | clinical testing |