ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.*1357del

dbSNP: rs886061999
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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 RCV000283449 SCV000466810 uncertain significance Familial aplasia of the vermis 2016-06-14 criteria provided, single submitter clinical testing

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