ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.1050C>T (p.His350=)

gnomAD frequency: 0.00053  dbSNP: rs575344158
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698405 SCV000726345 likely benign not provided 2020-06-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000605308 SCV000731815 benign not specified 2017-08-10 criteria provided, single submitter clinical testing p.His362His in exon 9 of OTOG: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has also been identified in 0.4% (35/8398) of Ashkenazi Jewish chromosomes by the Genome Aggregation Database (gnomAD, htt p://gnomad.broadinstitute.org; dbSNP rs575344158).
Labcorp Genetics (formerly Invitae), Labcorp RCV001698405 SCV003292407 benign not provided 2022-08-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001698405 SCV004136047 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing OTOG: BP4, BP7

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