ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.256-1G>T (rs886556800)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668882 SCV000793556 likely pathogenic Cholestanol storage disease 2017-08-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000728856 SCV000856474 pathogenic not provided 2017-08-29 criteria provided, single submitter clinical testing
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile RCV000668882 SCV000897999 pathogenic Cholestanol storage disease 2014-04-07 criteria provided, single submitter research This patient is a compound heterozygote for the substitution c.256-1G>T that causes exon 2 skipping, leading to a premature stop codon in exon 3, and for the pathogenic mutation c.1183C>T(p.Arg395Cys).

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