ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)

gnomAD frequency: 0.00004  dbSNP: rs141659018
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cole/Wambach Lab,Washington University in St. Louis RCV000755671 SCV000886476 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-10-01 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV000994469 SCV001148006 likely pathogenic not provided 2018-03-01 criteria provided, single submitter clinical testing
Invitae RCV000994469 SCV002135625 pathogenic not provided 2021-09-01 criteria provided, single submitter clinical testing
OMIM RCV000755671 SCV000883073 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2022-05-24 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000755671 SCV001479499 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291256 SCV001479681 likely pathogenic Wiedemann-Rautenstrauch-like progeroid syndrome no assertion criteria provided research
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000994469 SCV001959515 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000994469 SCV001972787 likely pathogenic not provided no assertion criteria provided clinical testing

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