ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.749del (p.Leu250fs)

dbSNP: rs2146436212
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV001806228 SCV001745850 pathogenic Autosomal recessive nonsyndromic hearing loss 8 2021-02-10 criteria provided, single submitter clinical testing This variant was identified in compound heterozygosity with another variant in the same gene in a male patient with prelingual bilateral severe hearing loss

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