ClinVar Miner

Submissions for variant NM_000784.3(CYP27A1):c.-357dup

dbSNP: rs397795841
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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 RCV000322434 SCV000427455 benign Cholestanol storage disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001653620 SCV001870268 benign not provided 2020-10-18 criteria provided, single submitter clinical testing

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