ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.6162+5G>A

dbSNP: rs1565541888
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Institute on Deafness and Communication Disorders, National Institutes of Health RCV000681542 SCV000807734 pathogenic Autosomal recessive nonsyndromic hearing loss 21 2018-07-05 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291356 SCV001479830 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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