ClinVar Miner

Submissions for variant NM_018082.6(POLR3B):c.2774C>T (p.Pro925Leu) (rs775141057)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochimie-Hormonologie,Robert Debre Hospital RCV000477761 SCV000564290 pathogenic Cerebellar hypoplasia with endosteal sclerosis 2016-12-21 no assertion criteria provided clinical testing

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