ClinVar Miner

Submissions for variant NM_001128228.3(TPRN):c.1159G>T (p.Glu387Ter)

dbSNP: rs1187168418
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV000770879 SCV000902393 likely pathogenic Autosomal recessive nonsyndromic hearing loss 79 2019-02-26 no assertion criteria provided case-control

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