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
80 34 85 41 20 1 214

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 73 34 85 41 20 1 207
​intergenic 7 0 0 0 0 0 7

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 35 4 15 30 14 0 98
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
OMIM 13 0 0 0 0 0 13
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
Baylor Genetics 3 0 0 0 0 0 3
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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 1 0 2
Myriad Women's Health, Inc. 2 0 0 0 0 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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 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

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