ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.5438T>G (p.Val1813Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Indian Institute of Integrative Medicine,Council of Scientific and Industrial Research RCV001269339 SCV001448682 likely pathogenic Deafness, autosomal recessive 18b 2020-02-15 no assertion criteria provided research Carriers (Heterozygous) were found in this study.

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