ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.490+1G>A

dbSNP: rs1564623882
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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 RCV000757951 SCV000886472 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-10-01 criteria provided, single submitter research
University of Washington Center for Mendelian Genomics, University of Washington RCV000757951 SCV001479495 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome no assertion criteria provided research

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