ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.1076_1077del (p.Thr359fs)

dbSNP: rs1574646155
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hearing and Balance Clinic, First Affliiated Hospital of Kunming Medical University RCV000984878 SCV001132682 pathogenic Waardenburg syndrome type 1 2019-12-26 no assertion criteria provided clinical testing The proband was a 1-year-old girl who suffered from congenital bilateral profound hearing loss.Her mother was exhibited bilateral blue iris. Calculated W index of the proband was 2.39 and that of her mother was 2.31(both were over 1.95)

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