ClinVar Miner

Variants studied for polydactyly-syndactyly-triphalangism

Included ClinVar conditions (78):
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
1595 861 5886 6280 652 8 14446

Gene and significance breakdown #

Total genes and gene combinations: 87
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEP290 550 201 1092 1534 91 2 3308
CC2D2A 206 146 712 947 53 0 1929
RPGRIP1L 215 131 648 813 50 0 1750
KIF7 52 30 707 491 49 1 1262
LRP4 18 18 668 523 58 1 1214
TMEM67 130 109 404 468 27 0 1063
GLI3 97 22 392 370 187 1 962
MKS1 90 88 321 437 18 0 884
TCTN2 29 18 219 224 24 0 514
TCTN1 22 13 145 150 15 0 345
B9D1 6 3 58 73 6 0 146
KIF7, LOC126862216 6 1 65 64 6 0 134
FGFR2 14 5 82 27 1 0 128
SALL1 26 12 57 28 8 2 126
CEP290, RLIG1 20 8 43 32 1 0 95
TMEM216 5 20 60 6 7 0 94
GJA1 3 0 39 1 18 0 61
LOC130061271, MKS1 9 3 29 24 1 0 60
CEP290, LOC129390514 2 3 13 21 1 0 40
B9D2 1 0 16 14 8 0 39
FGFR3 16 0 16 5 1 1 38
FGF10 8 7 13 3 0 0 31
SMO 6 2 13 2 4 0 27
HOXD13 19 1 6 0 1 0 26
CKAP2L 11 4 8 1 1 0 24
B9D1, LOC130060455 1 0 10 9 1 0 21
NPHP3, NPHP3-ACAD11 0 0 10 0 1 0 11
FBLN1 0 0 5 1 2 0 8
LOC130005663, LRP4 0 0 4 4 0 0 8
LOC130005664, LRP4 0 0 4 0 2 0 6
BHLHA9 3 2 0 0 1 0 5
CCNQ 4 1 0 0 0 0 5
LOC130008755, TCTN1 0 0 0 4 1 0 5
ATP6V0A2, TCTN2 1 0 1 0 2 0 4
GLI1 1 0 1 0 3 0 4
TXNDC15 1 2 1 0 0 0 4
CKAP2L, NT5DC4 1 0 1 0 1 0 3
LOC130059035, RPGRIP1L 0 0 3 0 0 0 3
ATP6V0A2, LOC130009117, TCTN2 0 0 0 2 0 0 2
B9D2, TGFB1 0 0 1 0 1 0 2
C12orf50, CEP290, RLIG1 2 0 0 0 0 0 2
LMBR1 2 0 0 0 0 0 2
LMBR1, LOC129999724, LOC129999725, ZRS 2 0 0 0 0 0 2
LMBR1, ZRS 1 1 0 0 0 0 2
LOC129937587, NPHP3, NPHP3-ACAD11 0 0 1 0 1 0 2
SCLT1 1 1 0 0 0 0 2
STAR 2 0 0 0 0 0 2
TMEM218 2 0 0 0 0 0 2
​intergenic 0 0 1 0 0 0 1
AKAP1, APPBP2, BCAS3, BRIP1, C17orf47, C17orf67, CA4, CHCT1, CLTC, COIL, CUEDC1, DGKE, DHX40, DYNLL2, DYNLL2-DT, EPX, GDPD1, HEATR6, HSF5, LINC02875, LPO, MIR21, MKS1, MPO, MRPS23, MSI2, MTMR4, NACA2, NOG, OR4D1, OR4D2, PPM1D, PPM1E, PRR11, PTRH2, RAD51C, RNF43, RNFT1, RPS6KB1, SCPEP1, SEPTIN4, SKA2, SMG8, SRSF1, SUPT4H1, TBX2, TBX4, TEX14, TRIM25, TRIM37, TSPOAP1, TUBD1, USP32, VEZF1, VMP1, YPEL2 0 0 1 0 0 0 1
ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC5A10, SMCR8, SNORD3A, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B 0 0 1 0 0 0 1
BST1, CC2D2A, CD38, FAM200B, FBXL5, FGFBP1, FGFBP2, PROM1, TAPT1 0 0 1 0 0 0 1
C12orf50, CEP290, KITLG, RLIG1, TMTC3 1 0 0 0 0 0 1
CCDC172 0 0 1 0 0 0 1
CCNQ, LOC105373383, LOC111589209, LOC130068825, LOC130068826, LOC130068827, LOC130068828 1 0 0 0 0 0 1
CCNQ, LOC130068825 0 0 1 0 0 0 1
CDK13, GLI3, INHBA, MPLKIP, RALA, SUGCT 1 0 0 0 0 0 1
CEP290, LOC129390514, LOC130008346, RLIG1 1 0 0 0 0 0 1
CEP295 0 0 1 0 0 0 1
CHST11 0 0 1 0 0 0 1
CIMIP2B 0 0 1 0 0 0 1
CSPP1 0 1 0 0 0 0 1
EIF2B1, GTF2H3, TCTN2 0 0 1 0 0 0 1
EVC2 0 1 0 0 0 0 1
EVX2, LOC110120627 0 1 0 0 0 0 1
EXOC3L2 0 1 0 0 0 0 1
EXOC4, LOC101928861 0 1 0 0 0 0 1
FTO, IRX3, IRX5, IRX6, MMP2, RPGRIP1L 1 0 0 0 0 0 1
FTO, IRX3, IRX5, RPGRIP1L 0 0 1 0 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 0 1
GLI3, INHBA 1 0 0 0 0 0 1
GLI3, LOC110120590, LOC110121030, LOC110121152 1 0 0 0 0 0 1
GLI3, LOC110121152 0 0 1 0 0 0 1
HOXB, HOXB6, LOC130061088 0 0 1 0 0 0 1
KIAA0586 0 1 0 0 0 0 1
KIF7, TICRR 0 0 0 1 0 0 1
LMBR1, RNF32 1 0 0 0 0 0 1
LOC129937586, NPHP3, NPHP3-ACAD11 0 0 1 0 0 0 1
LOC129999303, SMO 0 0 1 0 0 0 1
NHEJ1 1 0 0 0 0 0 1
PDP1, TMEM67 1 0 0 0 0 0 1
SHH 0 0 1 0 0 0 1
SNORD118, TMEM107 0 0 1 0 0 0 1
TMEM138 0 1 0 0 0 0 1
TMEM231 0 1 0 0 0 0 1
TMEM237 0 1 0 0 0 0 1
TTC6 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 113
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1363 327 4042 6061 498 0 12291
Fulgent Genetics, Fulgent Genetics 169 372 1896 274 13 0 2721
Illumina Laboratory Services, Illumina 1 1 839 99 206 0 1142
OMIM 113 0 0 0 0 0 113
Natera, Inc. 5 2 84 11 7 0 109
Genome-Nilou Lab 0 0 14 0 76 0 90
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 82 0 0 0 0 83
Counsyl 1 31 33 5 0 0 70
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 10 16 14 0 1 0 41
New York Genome Center 1 1 38 0 0 0 40
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 28 11 0 0 0 0 39
Juno Genomics, Hangzhou Juno Genomics, Inc 21 6 9 0 0 0 36
Baylor Genetics 9 3 16 0 0 0 28
Genetic Services Laboratory, University of Chicago 11 6 3 0 0 0 20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 2 9 0 0 0 19
Myriad Genetics, Inc. 1 18 0 0 0 0 19
Neuberg Centre For Genomic Medicine, NCGM 4 3 12 0 0 0 19
3billion, Medical Genetics 6 4 4 2 0 0 16
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 7 8 0 0 0 0 15
Revvity Omics, Revvity 2 1 9 1 0 0 13
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 13 0 0 0 13
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 8 1 0 0 0 10
Mendelics 2 1 1 4 2 0 10
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 5 0 0 0 0 10
MVZ Medizinische Genetik Mainz 1 3 6 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 2 3 4 0 0 0 9
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 3 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 4 0 0 0 7
Daryl Scott Lab, Baylor College of Medicine 1 1 5 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 1 0 0 0 0 6
UW Hindbrain Malformation Research Program, University of Washington 6 0 0 0 0 0 6
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 6 0 0 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 3 1 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 5 0 0 0 6
Institute of Medical Genetics, University of Zurich 4 1 1 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 3 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 0 1 4 0 0 0 5
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 2 2 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 3 0 0 0 0 4
MGZ Medical Genetics Center 1 1 1 1 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 4 0 4
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 4 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 2 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 3 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 1 1 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 0 1 0 1 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 4 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 3 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 1 0 0 0 3
Institute of Human Genetics, University of Goettingen 2 1 0 0 0 0 3
GeneReviews 1 0 0 0 0 2 3
Human Genetics, Philipps Universitaet Marburg 3 0 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Ali Lab, Centre for Genetic Disorders, Banaras Hindu University 3 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 2 0 0 0 3
Suma Genomics 2 0 1 0 0 0 3
Sanford Medical Genetics Laboratory, Sanford Health 1 0 1 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 1 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 2 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 2 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 1 0 0 2
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 0 0 0 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 2 0 0 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 2 0 0 0 0 0 2
Precision Medicine Center, Zhengzhou University 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Molecular Genetics, Royal Melbourne Hospital 0 1 0 1 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília 1 0 0 0 0 0 1
Center for Statistical Genetics, Columbia University 0 0 1 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 0 1
Clinical Genetics, Charité Universitaetsmedizin Berlin 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Tolun Lab, Human Genetics Laboratory, Bogazici University 0 0 1 0 0 0 1
Dental Genetics Laboratory, Seoul National University School of Dentistry 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
Bio-informatics Data Center, China National GeneBank 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Molecular Genetics Center, Sichuan Provincial People's Hospital 0 1 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 1 0 0 0 0 1
Women's and Children's Health, University of Otago 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Shieh Lab, University of California, San Francisco 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 1
Neonatology Unit, University Hospital of Modena 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
Neonatal Intensive Care Unit, Fujian Provincial Hospital 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 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.