ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1297dup (p.Arg433fs)

dbSNP: rs2470229842
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002468869 SCV002765062 pathogenic Cholestanol storage disease 2022-11-22 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_000784.4:c.1381C>T._x000D_ Criteria applied: PVS1, PM3, PM2_SUP

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