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
43 70 89 14 15 2 199

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DHCR7 43 70 89 14 15 2 199

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 10 61 41 0 0 0 112
Illumina Clinical Services Laboratory,Illumina 4 3 41 10 5 0 63
Invitae 21 7 7 3 7 0 45
OMIM 21 0 0 0 0 0 21
Fulgent Genetics,Fulgent Genetics 9 3 7 0 0 0 19
Integrated Genetics/Laboratory Corporation of America 12 3 0 0 0 0 15
GeneReviews 12 0 0 0 0 0 12
Athena Diagnostics Inc 0 0 0 0 6 0 6
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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biochemistry Laboratory of CDMU,Chengde Medical University 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 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
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

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