ClinVar Miner

Submissions for variant NM_015425.6(POLR1A):c.2527C>T (p.Arg843Ter) (rs1377622831)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemistry Laboratory of CDMU,Chengde Medical University RCV000768447 SCV000899208 pathogenic Acrofacial dysostosis, Cincinnati type no assertion criteria provided case-control

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