ClinVar Miner

Submissions for variant NM_001128228.3(TPRN):c.1530del (p.Thr511fs)

dbSNP: rs387906222
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000161 SCV000020304 pathogenic Autosomal recessive nonsyndromic hearing loss 79 2010-03-12 no assertion criteria provided literature only

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