ClinVar Miner

Variants studied for Cholestanol storage disease

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
82 41 100 44 21 1 237

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CYP27A1 75 41 100 44 21 1 230
​intergenic 7 0 0 0 0 0 7

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 36 3 26 30 14 0 109
GeneReviews 62 0 0 0 7 0 69
Counsyl 8 23 28 1 0 0 60
Illumina Clinical Services Laboratory,Illumina 3 2 44 7 3 0 59
Natera, Inc. 10 0 15 9 4 0 38
OMIM 13 0 0 0 0 0 13
Myriad Women's Health, Inc. 2 8 0 0 0 0 10
Baylor Genetics 8 0 1 0 0 0 9
Mendelics 2 2 0 1 0 0 5
Fulgent Genetics,Fulgent Genetics 2 1 2 0 0 0 5
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 4 0 0 5
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 1 0 2
Genetic Services Laboratory,University of Chicago 0 1 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 1 0 0 1

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