ClinVar Miner

Submissions for variant NM_001301130.2(POLR2F):c.294-8020del (rs1555938422)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Human Genetics,Universidade de São Paulo RCV000626401 SCV000678736 likely pathogenic Waardenburg syndrome type 2A 2017-03-01 criteria provided, single submitter research

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