ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.5027C>G (p.Ser1676Ter)

dbSNP: rs1477766714
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tehran Medical Genetics Laboratory RCV000585676 SCV000692578 likely pathogenic Autosomal recessive nonsyndromic hearing loss 84B 2016-10-05 criteria provided, single submitter clinical testing This variant was found in compound heterozygous form with c.4253G>T/p.C1418F, which is a previously unreported variant but was not submitted to ClinVar.

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