ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) (rs397516874)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000211777 SCV000061508 pathogenic Rare genetic deafness 2010-06-18 criteria provided, single submitter clinical testing
Counsyl RCV000037846 SCV000220194 pathogenic Deafness, autosomal recessive 1A 2014-03-27 criteria provided, single submitter literature only
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000037846 SCV000924174 pathogenic Deafness, autosomal recessive 1A criteria provided, single submitter research
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678883 SCV000805076 pathogenic Hearing loss 2008-09-11 no assertion criteria provided clinical testing

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