ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.1342C>T (p.Arg448Ter)

dbSNP: rs773152243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr.Nikuei Genetic Center RCV001822908 SCV005088607 pathogenic Autosomal recessive nonsyndromic hearing loss 28 criteria provided, single submitter clinical testing
WangQJ Lab, Chinese People's Liberation Army General Hospital RCV001822908 SCV001762437 likely pathogenic Autosomal recessive nonsyndromic hearing loss 28 2021-07-01 no assertion criteria provided clinical testing

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