ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.6929G>A (p.Arg2310His) (rs142799217)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727024 SCV000705001 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000727024 SCV000984049 likely benign not provided 2018-04-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare 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.

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