ClinVar Miner

Submissions for variant NM_001145026.2(PTPRQ):c.715A>G (p.Arg239Gly)

gnomAD frequency: 0.00006  dbSNP: rs281865414
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000144416 SCV000027064 pathogenic Autosomal recessive nonsyndromic hearing loss 84A 2010-04-09 no assertion criteria provided literature only
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000144416 SCV000189471 not provided Autosomal recessive nonsyndromic hearing loss 84A no assertion provided not provided

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