ClinVar Miner

Submissions for variant NM_001145026.2(PTPRQ):c.5239C>T (p.Arg1747Ter)

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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 Rare Diseases, West China Hospital, Sichuan University RCV005053626 SCV005687303 pathogenic Autosomal recessive nonsyndromic hearing loss 84A 2025-01-09 criteria provided, single submitter research PVS1;PM3_Supporting;PM2_Supporting

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