ClinVar Miner

Variants in gene CYP27A1

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 total
69 34 132 13 18 227

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cholestanol storage disease 61 30 57 7 9 138
not provided 21 5 88 3 5 119
not specified 0 0 0 3 10 12
Regression of motor development with severe dystonia and corresponding basal ganglia lesions 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 19 1 85 0 8 113
GeneReviews 55 0 0 0 7 62
Counsyl 8 23 28 1 0 60
Illumina Clinical Services Laboratory,Illumina 3 2 23 1 1 30
Invitae 15 1 6 0 1 23
GeneDx 6 2 1 2 3 14
OMIM 13 0 0 0 0 13
Athena Diagnostics Inc 0 1 5 1 5 12
Fulgent Genetics,Fulgent Genetics 2 1 2 0 0 5
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 4 0 5
PreventionGenetics 0 0 0 2 2 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 1 0 3
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 1 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 1 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 1 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 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 1

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