ClinVar Miner

Submissions for variant NM_001277269.2(OTOG):c.[6110C>T] (rs61736002)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000215530 SCV000269516 benign not specified 2016-02-02 criteria provided, single submitter clinical testing p.Ala2037Val in exon 35 of OTOG: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (36/5462) of South Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs61736002).
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224482 SCV000280663 uncertain significance not provided 2016-05-12 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Athena Diagnostics Inc RCV000224482 SCV000842987 likely benign not provided 2018-07-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000215530 SCV000863024 likely benign not specified 2018-09-11 criteria provided, single submitter clinical testing
Invitae RCV000224482 SCV001122353 likely benign not provided 2019-12-31 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) RCV001254787 SCV001167201 uncertain significance Meniere disease 2020-01-01 criteria provided, single submitter case-control
GeneDx RCV000224482 SCV001780656 likely benign not provided 2021-07-22 criteria provided, single submitter clinical testing

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