ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) (rs1168641193)

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Total submissions: 3
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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 RCV000754387 SCV000786636 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-04-01 criteria provided, single submitter research
Cole/Wambach Lab,Washington University in St. Louis RCV000754387 SCV000886480 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-10-01 criteria provided, single submitter research
OMIM RCV000754387 SCV000883068 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2019-02-13 no assertion criteria provided literature only

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