ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.6827C>T (p.Thr2276Ile)

gnomAD frequency: 0.00078  dbSNP: rs569603083
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Total submissions: 3
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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 RCV000825215 SCV000966494 likely benign not specified 2018-03-21 criteria provided, single submitter clinical testing p.Thr2288Ile in exon 40 of OTOG: This variant is classified as iikely benign bec ause it has been identified in 0.3% (43/15222) of African chromosomes by the Gen ome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs5696 03083). In addition, computational prediction tools and conservation analysis su ggest that the p.Thr2288Ile variant may not impact the protein. ACMG/AMP Criteri a applied: BA1; BP4.
Fulgent Genetics, Fulgent Genetics RCV002495187 SCV002799812 likely benign Autosomal recessive nonsyndromic hearing loss 18B 2021-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003542314 SCV004245910 likely benign not provided 2023-11-02 criteria provided, single submitter clinical testing

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