ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.925dup (p.Glu309fs)

dbSNP: rs1692180906
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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 RCV001290149 SCV001478205 pathogenic Waardenburg syndrome type 1 2019-01-01 criteria provided, single submitter clinical testing

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