ClinVar Miner

Variants studied for Smith-Lemli-Opitz syndrome

Included ClinVar conditions (1):
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
157 171 222 393 41 13 834

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DHCR7 155 171 221 392 38 13 828
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

Submitter and significance breakdown #

Total submitters: 55
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 143 69 88 374 24 0 698
Natera, Inc. 21 14 58 29 23 0 145
Illumina Laboratory Services, Illumina 4 3 72 12 12 0 103
Fulgent Genetics, Fulgent Genetics 23 17 42 18 2 0 102
Counsyl 3 57 41 0 0 0 101
Baylor Genetics 31 17 2 0 0 0 50
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 24 18 0 0 0 0 42
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 1 3 3 14 0 27
Myriad Genetics, Inc. 7 17 0 0 0 0 24
Genome-Nilou Lab 3 0 3 3 13 0 22
OMIM 21 0 0 0 0 0 21
Revvity Omics, Revvity 9 5 5 0 0 0 19
GeneReviews 0 0 0 0 0 13 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 1 0 0 0 6
Athena Diagnostics Inc 0 0 0 0 5 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 3 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 2 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 0 0 1 0 4
New York Genome Center 3 1 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 0 0 0 0 3
MGZ Medical Genetics 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 0 1 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 1 0 0 0 3
3billion 1 2 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 0 3
DASA 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 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
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 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
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 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
Mendelics 0 1 0 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
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 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.