ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1048+5G>T

gnomAD frequency: 0.00001  dbSNP: rs890755853
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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 RCV000754382 SCV000786631 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-04-01 criteria provided, single submitter research
OMIM RCV000754382 SCV000883064 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2022-05-24 no assertion criteria provided literature only

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