ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.529_556del (p.Arg177fs)

dbSNP: rs2145768352
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Precision Medicine Center, Zhengzhou University RCV001353100 SCV001548236 pathogenic Waardenburg syndrome type 2E criteria provided, single submitter research PVS1+PM2+PP3

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