ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.3356T>C (p.Ile1119Thr)

gnomAD frequency: 0.00197  dbSNP: rs150426222
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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).
GeneDx RCV000731530 SCV000725482 likely benign not provided 2021-01-18 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731530 SCV000859361 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000731530 SCV001097692 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000731530 SCV005435809 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing OTOGL: BP4
PreventionGenetics, part of Exact Sciences 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).

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