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
316 139 226 121 43 806

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 209 56 83 31 8 376
SMC1A 29 25 56 32 10 139
SMC3 10 13 36 22 10 80
FGFR2 10 3 23 30 10 74
SLC26A2 10 24 4 0 3 40
HDAC8 14 14 6 0 0 33
RAD21 9 2 7 3 2 23
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: 46
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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 36 14 43 6 24 123
OMIM 49 0 0 0 0 49
Baylor Miraca Genetics Laboratories, 18 14 3 0 0 35
Counsyl 2 23 0 0 0 25
Fulgent Genetics 9 1 10 1 0 21
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 16 0 0 0 0 16
GeneReviews 12 0 0 0 0 12
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 0 0 0 0 7
HudsonAlpha Institute for Biotechnology 1 2 1 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 2 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 1 0 0 0 3
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 3 0 0 3
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 1 2 0 0 3
Institute of Human Genetics,University of Goettingen 0 2 0 0 0 2
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,Institute of Human Genetics 1 0 1 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
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
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
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
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
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 1

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