ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His)

gnomAD frequency: 0.00211  dbSNP: rs142799217
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Total submissions: 4
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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 RCV000220038 SCV000272258 benign not specified 2018-02-22 criteria provided, single submitter clinical testing p.Arg2310His in exon 40 of OTOG: This variant is not expected to have clinical s ignificance because it has been identified in 0.75% (114/15242) of African chrom osomes, including one homozygote, by the Genome Aggregation Database (gnomAD, ht tp://gnomad.broadinstitute.org/; dbSNP rs142799217). ACMG/AMP Criteria applied: BA1.
Eurofins Ntd Llc (ga) RCV000727024 SCV000705001 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000727024 SCV000984049 likely benign not provided 2020-06-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000727024 SCV002322047 benign not provided 2024-12-13 criteria provided, single submitter clinical testing

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