ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.5185G>A (p.Gly1729Arg)

gnomAD frequency: 0.00006  dbSNP: rs368666159
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002275418 SCV002562521 uncertain significance not provided 2022-02-14 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
Revvity Omics, Revvity RCV003134414 SCV003816540 uncertain significance Autosomal recessive nonsyndromic hearing loss 18B 2020-02-07 criteria provided, single submitter clinical testing

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