ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7903G>A (p.Asp2635Asn) (rs183470913)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000203141 SCV000257885 uncertain significance not specified 2015-02-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000203141 SCV000272266 benign not specified 2017-06-24 criteria provided, single submitter clinical testing p.Asp2635Asn in exon 47 of OTOG: This variant is not expected to have clinical s ignificance because it has been identified in 0.85% (130/15230) of African chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs183470913).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000203141 SCV000707289 benign not specified 2017-04-04 criteria provided, single submitter clinical testing
GeneDx RCV001563013 SCV001785879 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing

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