ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4435G>A (p.Gly1479Ser)

gnomAD frequency: 0.00040  dbSNP: rs145588516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001590072 SCV001824919 uncertain significance not provided 2023-02-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001590072 SCV004454634 benign not provided 2023-12-27 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003987885 SCV004804831 uncertain significance Autosomal recessive nonsyndromic hearing loss 9 2024-03-17 criteria provided, single submitter research

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