ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7861C>A (p.Gln2621Lys) (rs61995750)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000215434 SCV000270684 benign not specified 2017-06-26 criteria provided, single submitter clinical testing p.Gln2621Lys in exon 47 of OTOG: This variant is not expected to have clinical s ignificance because it has been identified in 1.5% (232/15266) of African chromo somes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.o rg; dbSNP rs61995750).
GeneDx RCV000215434 SCV000725087 likely benign not specified 2017-12-12 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.
Athena Diagnostics Inc RCV000712489 SCV000842991 benign not provided 2018-05-29 criteria provided, single submitter clinical testing
Invitae RCV000712489 SCV001024670 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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