ClinVar Miner

Variants studied for sterol biosynthesis disorder

Included ClinVar conditions (17):
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
310 245 670 705 134 116 1917

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DHCR7 156 175 223 392 38 13 833
MVK 66 26 172 259 18 92 556
SC5D 7 1 103 10 17 0 137
DHCR24 6 5 62 19 20 0 109
LBR 10 2 74 8 14 0 105
EBP 32 19 9 2 1 0 62
ARSL 15 12 13 2 16 7 56
NSDHL 10 5 9 10 2 4 37
MMAB, MVK 0 0 1 2 5 0 7
MSMO1 3 0 0 0 0 0 3
CLCN1 2 0 0 0 0 0 2
DHCR7, NADSYN1 0 0 1 1 1 0 2
LDLR 0 0 0 0 2 0 2
LOC130006930, SC5D 0 0 2 0 0 0 2
ARSD, ARSL 1 0 0 0 0 0 1
C5 1 0 0 0 0 0 1
MMAB, MVK, UBE3B 0 0 1 0 0 0 1
TSHR 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 87
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 202 83 222 624 39 0 1170
Illumina Laboratory Services, Illumina 6 5 335 53 76 0 475
Fulgent Genetics, Fulgent Genetics 29 21 81 41 2 0 174
Natera, Inc. 21 14 58 29 23 0 145
Counsyl 3 57 41 0 0 0 101
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 91 91
OMIM 86 0 0 0 0 0 86
Baylor Genetics 34 20 5 0 0 0 59
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 34 22 0 0 0 0 56
Genetic Services Laboratory, University of Chicago 21 20 3 0 0 0 44
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 1 5 4 24 0 40
Genome-Nilou Lab 3 0 3 3 28 0 37
Revvity Omics, Revvity 9 7 9 0 0 0 25
Myriad Genetics, Inc. 7 17 0 0 0 0 24
GeneReviews 0 0 0 0 0 23 23
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 14 4 2 0 0 0 20
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 2 5 0 0 0 11
Juno Genomics, Hangzhou Juno Genomics, Inc 6 1 3 0 0 0 10
New York Genome Center 3 1 6 0 0 0 10
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 4 0 0 0 0 9
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 3 0 0 0 0 9
3billion 3 3 2 1 0 0 9
Mendelics 3 2 1 1 1 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 3 2 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 4 0 0 0 6
Athena Diagnostics 0 0 0 0 5 0 5
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 1 0 2 0 0 5
MGZ Medical Genetics Center 1 2 2 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 2 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 1 0 0 1 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 3 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 1 2 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 1 1 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 1 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 2 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 1 1 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 1 1 0 4
DASA 3 1 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 0 1 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 2 1 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 1 0 0 0 3
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 1 0 0 0 3
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 2 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
Hadassah Hebrew University Medical Center 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 2 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 0 0 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 2 0 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 1 0 0 0 2
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 1 0 0 0 0 2
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Christian Medical College, Vellore 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1
Heon Lab, The Hospital for Sick Children 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1
Hunan Provincial Maternal and Child Health Care Hospital 0 1 0 0 0 0 1

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