ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.404A>G (p.Glu135Gly)

dbSNP: rs1943692342
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
Natera, Inc. RCV001277354 SCV001464299 uncertain significance Cholestanol storage disease 2020-08-14 no assertion criteria provided clinical testing

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