ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.709G>C (p.Ala237Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795580 SCV005416146 uncertain significance Alveolar rhabdomyosarcoma; Waardenburg syndrome type 1; Craniofacial-deafness-hand syndrome; Waardenburg syndrome type 3 criteria provided, single submitter clinical testing PM2_Supporting+PP3+PP4

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