ClinVar Miner

Variants in gene DHCR7

Minimum submission review status: Collection method:
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Gene type:
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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
46 79 154 38 25 2 276

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 40 68 87 14 15 2 194
not provided 22 16 79 3 9 0 122
History of neurodevelopmental disorder 3 2 15 14 11 0 45
not specified 0 0 4 16 22 0 36
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: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 16 4 74 3 16 0 113
Counsyl 10 61 41 0 0 0 112
Illumina Clinical Services Laboratory,Illumina 4 3 41 10 5 0 63
Ambry Genetics 4 2 18 14 11 0 48
GeneDx 14 7 3 7 3 0 34
Invitae 13 1 2 3 7 0 26
Integrated Genetics/Laboratory Corporation of America 12 3 3 2 2 0 22
OMIM 21 0 0 0 0 0 21
Fulgent Genetics 9 3 7 0 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 1 2 1 12 0 17
PreventionGenetics 0 0 0 2 11 0 13
GeneReviews 12 0 0 0 0 0 12
Athena Diagnostics Inc 1 0 0 0 6 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 0 1 2 0 0 6
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 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
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 2 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
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 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biochemistry Laboratory of CDMU,Chengde Medical University 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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1

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