ClinVar Miner

Variants in gene DHCR7

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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
78 107 206 119 36 3 433

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Smith-Lemli-Opitz syndrome 77 97 153 100 29 2 372
not provided 23 19 78 14 8 1 133
History of neurodevelopmental disorder 4 2 13 14 10 0 43
not specified 0 0 5 16 21 0 37
Inborn genetic diseases 5 0 3 0 0 0 8
2-3 toe syndactyly; Small for gestational age; Elevated 7-dehydrocholesterol; Congenital microcephaly 1 1 0 0 0 0 2
Microcephaly 0 0 2 0 0 0 2
Abnormality of brain morphology 0 1 0 0 0 0 1
Global developmental delay 1 0 0 0 0 0 1
Intellectual disability 0 0 0 1 0 0 1
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 58 21 24 94 14 0 211
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 16 4 73 3 15 0 111
Counsyl 3 57 41 0 0 0 101
Illumina Clinical Services Laboratory,Illumina 4 3 71 11 12 0 101
Ambry Genetics 7 2 16 14 10 0 49
Baylor Genetics 31 14 1 0 0 0 46
Natera, Inc. 1 3 28 8 5 0 45
Integrated Genetics/Laboratory Corporation of America 22 8 4 5 2 0 41
GeneDx 14 7 3 8 8 0 40
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 3 4 3 13 0 26
OMIM 21 0 0 0 0 0 21
Fulgent Genetics,Fulgent Genetics 9 3 7 0 0 0 19
Myriad Women's Health, Inc. 7 9 0 0 0 0 16
PreventionGenetics, PreventionGenetics 0 0 0 2 11 0 13
GeneReviews 13 0 0 0 0 0 13
Athena Diagnostics Inc 1 1 0 0 6 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 0 4 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 4 0 2 1 0 0 7
Gharavi Laboratory,Columbia University 2 4 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 1 0 2 2 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 0 1 1 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 1 0 0 1 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 2 0 0 0 4
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
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 0 1 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 0 0 1 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 1 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig 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
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
ISCA site 6 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 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
New York Genome Center 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1

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