ClinVar Miner

Submissions for variant NM_015425.6(POLR1A):c.473G>C (p.Arg158Pro) (rs146078741)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000960008 SCV001106953 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000986786 SCV001135910 likely benign Acrofacial dysostosis, Cincinnati type 2019-05-28 criteria provided, single submitter clinical testing

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