ClinVar Miner

Variants studied for Pierre Robin syndrome associated with bone disease

Included ClinVar conditions (19):
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 total
341 156 250 121 25 857

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NIPBL 216 58 92 32 5 392
SMC1A 37 30 62 30 2 152
SMC3 10 18 40 22 7 88
FGFR2 10 3 24 30 10 75
SLC26A2 15 26 8 0 1 46
HDAC8 17 16 7 0 0 39
RAD21 12 3 6 4 0 25
CPLANE1, NIPBL 7 2 8 3 0 20
FLNB 14 0 2 0 0 16
DMRTC1, DMRTC1B, HDAC8, NAP1L2, PABPC1L2A, PABPC1L2B, PHKA1 1 0 0 0 0 1
HDAC8, PHKA1 1 0 0 0 0 1
IQSEC2, SMC1A 0 0 1 0 0 1
KMT2A 1 0 0 0 0 1
TAF6 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genetic Services Laboratory, University of Chicago 186 67 71 0 2 326
Illumina Clinical Services Laboratory,Illumina 0 0 96 112 18 226
Invitae 53 18 60 3 6 139
OMIM 49 0 0 0 0 49
Baylor Genetics 21 15 3 0 0 39
Counsyl 2 23 0 0 0 25
Fulgent Genetics,Fulgent Genetics 9 1 10 1 0 21
Mendelics 6 6 2 2 0 16
GeneReviews 16 0 0 0 0 16
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 16 0 0 0 0 16
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 4 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 2 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 2 0 0 0 5
Institute of Human Genetics,University of Goettingen 0 2 1 1 0 4
Institute of Human Genetics,Klinikum rechts der Isar 3 1 0 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 2 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 1 0 3
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 3 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 2 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 2
Center for Human Genetics,University Hospitals Case Medical Center/Case Western Reserve University 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 2 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 0 1
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 1 0 0 0 0 1
McKusick-Nathans Institute of Genetic Medicine,Johns Hopkins University 1 0 0 0 0 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 1 0 0 1
Center for Human Genetics,University of Leuven 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
Database of Curated Mutations (DoCM) 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Bondeson Group,Uppsala University 0 1 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 1 0 0 0 0 1
Department of Eugenics & Genetics,Women & Infants Hospital of Zhengzhou 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 1

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