ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.6559C>T (p.Arg2187Ter) (rs397514608)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760466 SCV000890355 likely pathogenic not provided 2021-04-30 criteria provided, single submitter 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: 29800624, 23122587, 24378291)
OMIM RCV000033040 SCV000056820 pathogenic Deafness, autosomal recessive 18b 2012-11-02 no assertion criteria provided literature only

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