ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.3337-5T>A

gnomAD frequency: 0.00001  dbSNP: rs368905417
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498819 SCV000590341 likely pathogenic not provided 2022-01-17 criteria provided, single submitter clinical testing Non-canonical splice variant results in abnormal splicing leading to an in-frame deletion of exon 26 with an unclear effect on protein function (Lessel et al., 2018; Wambach et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30414627, 30450527, 25898808)
Cole/Wambach Lab,Washington University in St. Louis RCV000755669 SCV000886473 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-10-01 criteria provided, single submitter research
OMIM RCV000755669 SCV000883071 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2015-08-01 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291254 SCV001479679 likely pathogenic Wiedemann-Rautenstrauch-like progeroid syndrome no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000755669 SCV001479783 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome no assertion criteria provided research

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