ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.2434G>A (p.Asp812Asn) (rs141010212)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216432 SCV000270653 benign not specified 2017-01-25 criteria provided, single submitter clinical testing p.Asp812Asn in exon 19 of OTOG: This variant is not expected to have clinical si gnificance because it has been identified in 1.0% (184/17160) of African chromos omes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.or g; dbSNP rs141010212).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000216432 SCV000855600 likely benign not specified 2017-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000832618 SCV000974374 likely benign not provided 2018-06-16 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.

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