ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.94+75G>T

gnomAD frequency: 0.00045  dbSNP: rs550807341
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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, Mass General Brigham Personalized Medicine RCV000616159 SCV000713665 likely benign not specified 2017-09-14 criteria provided, single submitter clinical testing p.Ala57Ser in exon 1 of OTOG: This variant is not expected to have clinical sign ificance because it has been identified in 0.8% (14/1838) of East Asian chromoso mes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org ; dbSNP rs550807341).
GeneDx RCV002051867 SCV002319157 uncertain significance not provided 2022-03-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002051867 SCV003522828 likely benign not provided 2023-10-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962745 SCV004790545 benign OTOG-related disorder 2020-03-27 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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