ClinVar Miner

Submissions for variant NM_001145026.2(PTPRQ):c.6453+2dup

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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 Wuerzburg RCV004790114 SCV005400658 pathogenic Autosomal recessive nonsyndromic hearing loss 84A no assertion criteria provided research

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