ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1572+1G>A (rs141484643)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cole/Wambach Lab,Washington University in St. Louis RCV000757952 SCV000886477 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-10-01 criteria provided, single submitter research
University of Washington Center for Mendelian Genomics, University of Washington RCV000757952 SCV001479500 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome no assertion criteria provided research

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