ClinVar Miner

Submissions for variant NM_015425.6(POLR1A):c.1511G>A (p.Arg504His) (rs142266408)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000954076 SCV001100684 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262944 SCV001441002 uncertain significance Acrofacial dysostosis, Cincinnati type 2019-01-01 criteria provided, single submitter clinical testing

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