ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.100A>G (p.Ile34Val)

gnomAD frequency: 0.00011  dbSNP: rs117411391
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001565347 SCV001788679 uncertain significance not provided 2021-07-13 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; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001565347 SCV003266419 likely benign not provided 2024-07-12 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV005225437 SCV005871125 uncertain significance Autosomal recessive nonsyndromic hearing loss 84B 2024-01-01 criteria provided, single submitter clinical testing BP4

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