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
67 87 148 56 32 2 316

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DHCR7 67 87 147 55 29 2 312
DHCR7, NADSYN1 0 0 1 1 1 0 2
LDLR 0 0 0 0 2 0 2

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 42 12 19 41 14 0 128
Illumina Clinical Services Laboratory,Illumina 4 3 72 12 12 0 103
Counsyl 3 57 41 0 0 0 101
Natera, Inc. 1 3 29 8 8 0 49
Baylor Genetics 30 13 0 0 0 0 43
Integrated Genetics/Laboratory Corporation of America 19 5 0 0 0 0 24
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 1 1 11 0 14
GeneReviews 13 0 0 0 0 0 13
Athena Diagnostics Inc 0 0 0 0 6 0 6
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
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
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
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
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

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