ClinVar Miner

Submissions for variant NM_001145308.5(LRTOMT):c.384_385insCTCG (p.Glu129fs)

dbSNP: rs1565331646
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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 RCV000770827 SCV000902327 likely pathogenic Autosomal recessive nonsyndromic hearing loss 63 2019-02-26 no assertion criteria provided case-control

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