ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.3337-11T>C (rs1564613755)

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Total submissions: 2
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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

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