ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2891C>A (p.Ala964Glu)

dbSNP: rs201329629
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo RCV001730489 SCV001762967 pathogenic Bilateral sensorineural hearing impairment criteria provided, single submitter research in compound heterozygosis with a likely pathogenic missense variant in a patient with HL
GeneReviews RCV000056032 SCV000087092 not provided Autosomal recessive nonsyndromic hearing loss 9 no assertion provided literature only

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