ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.127G>T (p.Gly43Cys)

dbSNP: rs1574772091
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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 RCV001027516 SCV001162781 pathogenic Waardenburg syndrome type 1 2020-02-26 no assertion criteria provided clinical testing

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