ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1800C>T (p.Ile600=)

dbSNP: rs1564620047
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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 RCV000754384 SCV000786633 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-04-01 criteria provided, single submitter research
OMIM RCV000754384 SCV000883066 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2022-05-24 no assertion criteria provided literature only

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