ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1909+18G>A (rs267608677)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224081 SCV000280973 pathogenic not provided 2016-01-08 criteria provided, single submitter clinical testing
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital RCV000754389 SCV000786640 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-05-01 criteria provided, single submitter research
OMIM RCV000024140 SCV000045431 pathogenic Hypomyelinating leukodystrophy 7 2011-09-09 no assertion criteria provided literature only
GeneReviews RCV000024140 SCV000055884 pathologic Hypomyelinating leukodystrophy 7 2012-08-02 no assertion criteria provided curation Converted during submission to Pathogenic.

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