ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.6012C>T (p.Asp2004=) (rs61734252)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000925082 SCV001070611 benign not provided 2018-11-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001195584 SCV001365979 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Asp2016Asp in exon 35 of OTOG: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.22% (2/894) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs61734252).
GeneDx RCV000925082 SCV001765559 likely benign not provided 2020-09-14 criteria provided, single submitter clinical testing

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