ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.3337-11T>C

gnomAD frequency: 0.00001  dbSNP: rs1564613755
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital RCV000754381 SCV000786630 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-04-01 criteria provided, single submitter research
Cole/Wambach Lab,Washington University in St. Louis RCV000754381 SCV000886474 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-10-01 criteria provided, single submitter research
DESAM Institute,Near East University RCV000754381 SCV001424847 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-12-04 no assertion criteria provided clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV000754381 SCV001479497 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome no assertion criteria provided research

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