ClinVar Miner

Submissions for variant NM_000373.4(UMPS):c.*3183dup

gnomAD frequency: 0.17648  dbSNP: rs11443775
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000377788 SCV000440466 benign Orotic aciduria 2016-06-14 criteria provided, single submitter clinical testing

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