ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.452-2A>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV005002199 SCV005627766 likely pathogenic Waardenburg syndrome type 1 2025-01-20 criteria provided, single submitter clinical testing ACMG: PVS1_Strong, PM2_Supporting, PP1_Moderate, PP4

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