ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1572+1G>A

gnomAD frequency: 0.00003  dbSNP: rs141484643
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cole/Wambach Lab,Washington University in St. Louis RCV000757952 SCV000886477 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-10-01 criteria provided, single submitter research
GeneDx RCV001592941 SCV001824889 pathogenic not provided 2022-06-06 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30414627)
University of Washington Center for Mendelian Genomics, University of Washington RCV000757952 SCV001479500 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome no assertion criteria provided research

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