ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2039del (p.Val680fs)

dbSNP: rs2129318784
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital RCV001823304 SCV001763702 pathogenic Autosomal recessive nonsyndromic hearing loss 4 no assertion criteria provided case-control

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