ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7453C>T (p.Arg2485Ter) (rs866476223)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Genetic Institute, Ha'emek Medical center,Ha'emek Medical Center RCV000624828 SCV000740320 pathogenic Deafness, autosomal recessive 18b 2017-12-06 no assertion criteria provided research Severe to profound SNHL
GeneDx RCV001569884 SCV001794050 likely pathogenic not provided 2020-06-10 no assertion criteria provided clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 30139988)

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