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
62 92 184 77 34 2 355

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Smith-Lemli-Opitz syndrome 59 82 123 53 26 2 281
not provided 22 17 78 14 8 0 131
History of neurodevelopmental disorder 3 2 14 14 10 0 43
not specified 0 0 3 16 21 0 35
Inborn genetic diseases 2 0 3 0 0 0 5
2-3 toe syndactyly; Small for gestational age; Elevated 7-dehydrocholesterol; Congenital microcephaly 1 1 0 0 0 0 2
Abnormality of brain morphology 0 1 0 0 0 0 1
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 34 10 15 51 14 0 124
Counsyl 10 62 41 0 0 0 113
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 16 4 73 3 15 0 111
Illumina Clinical Services Laboratory,Illumina 4 3 71 11 12 0 101
Ambry Genetics 4 2 17 14 10 0 46
Baylor Genetics 30 13 0 0 0 0 43
GeneDx 14 7 3 8 8 0 40
OMIM 21 0 0 0 0 0 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 3 2 13 0 21
Integrated Genetics/Laboratory Corporation of America 12 3 2 3 1 0 21
Fulgent Genetics,Fulgent Genetics 9 3 7 0 0 0 19
PreventionGenetics,PreventionGenetics 0 0 0 2 11 0 13
GeneReviews 13 0 0 0 0 0 13
Myriad Women's Health, Inc. 7 5 0 0 0 0 12
Athena Diagnostics Inc 1 1 0 0 6 0 8
Gharavi Laboratory,Columbia University 2 4 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 0 1 2 2 0 0 5
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 1 0 0 2 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 0 1 1 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 2 0 0 0 1 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 0 0 1 0 0 3
Natera Inc 0 1 2 0 0 0 3
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Human Genetics Institute Leipzig, Universitätsklinikum Leipzig 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 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
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
ISCA site 6 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1

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