ClinVar Miner

Submissions for variant NM_001277269.2(OTOG):c.[3719C>T] (rs117005078)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000214949 SCV000272248 benign not specified 2017-06-13 criteria provided, single submitter clinical testing p.Pro1240Leu in exon 30 of OTOG: This variant is not expected to have clinical significance because it has been identified in 0.6% (384/67268) of European chro mosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute .org; dbSNP rs117005078). Furthermore, this variant has been reported by our la boratory in 10 individuals with hearing loss, including 4 with an alternate gene tic etiology identified.
GeneDx RCV000969361 SCV000618434 benign not provided 2019-06-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30097855)
Invitae RCV000969361 SCV001116873 likely benign not provided 2020-11-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000969361 SCV001144840 likely benign not provided 2018-09-12 criteria provided, single submitter clinical testing
Otology & Neurotology- Genomics of vestibular disorders (CTS-495),Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO) RCV001254784 SCV001167198 uncertain significance Meniere disease 2020-01-01 criteria provided, single submitter case-control

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