Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041485 | SCV000065180 | benign | not specified | 2016-06-09 | criteria provided, single submitter | clinical testing | p.Leu22Pro in exon 1A of OTOF: This variant is not expected to have clinical sig nificance because it has been identified in 0.5% (130/28336) of European chromos omes by the Exome Aggregation Consortium (http://exac.broadinstitute.org/; dbSNP rs143141993). |
Genomic Diagnostic Laboratory, |
RCV000041485 | SCV000258277 | likely benign | not specified | 2015-07-17 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000731859 | SCV000859715 | uncertain significance | not provided | 2018-02-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000731859 | SCV000982986 | likely benign | not provided | 2018-03-26 | 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. |
ARUP Laboratories, |
RCV000731859 | SCV001159906 | likely benign | not provided | 2022-10-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000731859 | SCV004140958 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | OTOF: BP4, BS2 |
Prevention |
RCV003934972 | SCV004751572 | likely benign | OTOF-related condition | 2022-11-03 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |