ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5990del (p.Thr1997fs)

dbSNP: rs2123499275
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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 RCV001823258 SCV001763619 pathogenic Autosomal dominant nonsyndromic hearing loss 4A no assertion criteria provided case-control

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