ClinVar Miner

Submissions for variant NM_001145026.2(PTPRQ):c.5606A>G (p.Gln1869Arg)

dbSNP: rs1275679740
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706955 SCV001934561 uncertain significance Hearing loss, autosomal dominant 73 2020-10-01 criteria provided, single submitter clinical testing

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