ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln) (rs778985686)

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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 RCV000754380 SCV000786629 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-04-01 criteria provided, single submitter research
OMIM RCV000754380 SCV000883062 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2019-02-13 no assertion criteria provided literature only

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