ClinVar Miner

Submissions for variant NM_001301131.1(POLR2F):c.294-27388_*10734del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
U955 Equipe 11, INSERM RCV000144842 SCV000108699 pathogenic Hirschsprung disease, susceptibility to, 1 2013-12-11 no assertion criteria provided clinical testing Regulation of SOX10 expression

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