Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041541 | SCV000065236 | benign | not specified | 2011-11-07 | criteria provided, single submitter | clinical testing | The Arg14Arg variant in OTOF is not expected to have clinical significance becau se it does not alter an amino acid residue, is not located near a splice junctio n, and has been identified in dbSNP in 18/4552 (0.4%) chromosomes from a North A merican population (dbSNP rs6734111). |
Gene |
RCV000844315 | SCV000986365 | likely benign | not provided | 2018-06-16 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000844315 | SCV001037526 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |