Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221579 | SCV000269555 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Ile1110Thr in exon 29 of OTOGL: This variant is not expected to have clinical si gnificance because it has been identified in 4.6% (9/194) of Luhya (Kenyan) chro mosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm .nih.gov/projects/SNP; dbSNP rs150426222). |
Gene |
RCV000731530 | SCV000725482 | likely benign | not provided | 2021-01-18 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000731530 | SCV000859361 | uncertain significance | not provided | 2018-02-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000731530 | SCV001097692 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000731530 | SCV005435809 | likely benign | not provided | 2024-09-01 | criteria provided, single submitter | clinical testing | OTOGL: BP4 |
Prevention |
RCV003977599 | SCV004787259 | likely benign | OTOGL-related disorder | 2023-07-17 | no assertion criteria provided | 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). |