ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) (rs72551318)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000056148 SCV000746388 pathogenic Cholestanol storage disease 2017-12-03 criteria provided, single submitter clinical testing
Counsyl RCV000056148 SCV000794326 pathogenic Cholestanol storage disease 2017-09-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732382 SCV000860335 pathogenic not provided 2018-09-17 criteria provided, single submitter clinical testing
GeneReviews RCV000056148 SCV000087229 pathologic Cholestanol storage disease 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.

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