ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.6181G>A (p.Val2061Met)

gnomAD frequency: 0.00018  dbSNP: rs748497956
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596135 SCV000708827 uncertain significance not provided 2017-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000596135 SCV001793726 uncertain significance not provided 2021-12-22 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
Fulgent Genetics, Fulgent Genetics RCV002483653 SCV002786951 uncertain significance Autosomal recessive nonsyndromic hearing loss 18B 2021-07-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002483653 SCV003816545 uncertain significance Autosomal recessive nonsyndromic hearing loss 18B 2022-06-06 criteria provided, single submitter clinical testing

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