ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) (rs111033401)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037874 SCV000061536 likely pathogenic Rare genetic deafness 2008-10-08 criteria provided, single submitter clinical testing
Counsyl RCV000666282 SCV000790546 pathogenic Deafness, autosomal recessive 1A 2017-03-28 criteria provided, single submitter clinical testing
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000666282 SCV000902322 pathogenic Deafness, autosomal recessive 1A 2019-02-26 no assertion criteria provided case-control

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