ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.882G>A (p.Glu294=) (rs59428328)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000055828 SCV000792737 likely benign Cholestanol storage disease 2017-07-11 criteria provided, single submitter clinical testing
GeneReviews RCV000055828 SCV000086814 non-pathogenic Cholestanol storage disease 2013-08-01 no assertion criteria provided curation Converted during submission to Benign.

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