ClinVar Miner

Variants studied for Smith-Lemli-Opitz syndrome

Coded as:
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
66 83 127 54 27 2 289

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DHCR7 66 83 126 53 26 2 287
DHCR7, NADSYN1 0 0 1 1 1 0 2

Submitter and significance breakdown #

Total submitters: 35
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 42 12 19 40 14 0 127
Illumina Clinical Services Laboratory,Illumina 4 3 72 12 12 0 103
Counsyl 3 57 41 0 0 0 101
Baylor Genetics 30 13 0 0 0 0 43
Integrated Genetics/Laboratory Corporation of America 18 4 0 0 0 0 22
OMIM 21 0 0 0 0 0 21
Fulgent Genetics,Fulgent Genetics 9 3 7 0 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 1 11 0 14
GeneReviews 13 0 0 0 0 0 13
Myriad Women's Health, Inc. 7 5 0 0 0 0 12
Athena Diagnostics Inc 0 0 0 0 6 0 6
Natera Inc 0 1 2 0 1 0 4
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
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, 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
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
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 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
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.