ClinVar Miner

Submissions for variant NM_138691.3(TMC1):c.150del (p.Asn50fs)

dbSNP: rs2132189585
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796651 SCV005417396 likely pathogenic Autosomal recessive nonsyndromic hearing loss 7; Autosomal dominant nonsyndromic hearing loss 36 criteria provided, single submitter clinical testing PM2_Supporting+PVS1
Fulgent Genetics, Fulgent Genetics RCV004796651 SCV005679353 pathogenic Autosomal recessive nonsyndromic hearing loss 7; Autosomal dominant nonsyndromic hearing loss 36 2024-01-16 criteria provided, single submitter clinical testing
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital RCV002051747 SCV001949929 pathogenic Autosomal recessive nonsyndromic hearing loss 7 no assertion criteria provided case-control

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