ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.366= (p.Gly122=)

dbSNP: rs1051087
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000056108 SCV000087185 non-pathogenic Cholestanol storage disease 2013-08-01 no assertion criteria provided curation Converted during submission to Benign.

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