ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.446+1G>A (rs587778797)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000056116 SCV000798622 pathogenic Cholestanol storage disease 2018-03-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733190 SCV000861221 pathogenic not provided 2018-05-10 criteria provided, single submitter clinical testing
GeneReviews RCV000056116 SCV000087194 pathologic Cholestanol storage disease 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.

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