ClinVar Miner

Submissions for variant NM_000373.4(UMPS):c.*56del

gnomAD frequency: 0.09036  dbSNP: rs3836305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000342485 SCV000440405 likely benign Oroticaciduria 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001653659 SCV001864620 benign not provided 2018-11-12 criteria provided, single submitter clinical testing

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