ClinVar Miner

Variants studied for oromandibular-limb anomalies syndrome

Included ClinVar conditions (25):
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
122 66 415 283 47 920

Gene and significance breakdown #

Total genes and gene combinations: 31
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TCTN3 32 9 174 144 13 370
CPLANE1 29 22 142 52 6 250
OFD1 14 6 21 23 3 66
LOC130004408, TCTN3 7 3 22 26 4 60
PDE6D 8 2 20 28 1 58
C2CD3 7 11 17 1 3 37
KIAA0753 3 1 1 3 9 17
DDX59 4 4 3 0 2 10
INTU 2 1 1 2 2 7
RAB34 5 0 1 0 0 6
IFT57 1 1 2 0 1 5
LOC105371520, TMEM107 2 0 1 0 2 5
C2CD3, LOC126861262 0 0 2 2 0 4
LOC129935846, PDE6D 0 0 1 2 0 3
LOC126863212, OFD1 0 0 2 0 0 2
NEK1 2 0 0 0 0 2
SCNM1, TNFAIP8L2-SCNM1 2 0 0 0 0 2
TBC1D32 0 1 1 0 0 2
WDPCP 0 2 0 0 0 2
ALPG, ALPI, ALPP, ARMC9, ATG16L1, B3GNT7, C2orf72, CAB39, CHRND, CHRNG, COPS7B, DGKD, DIS3L2, DNAJB3, ECEL1, EFHD1, EIF4E2, GIGYF2, GPR55, HJURP, HTR2B, ITM2C, KCNJ13, MROH2A, NCL, NEU2, NGEF, NMUR1, NPPC, PDE6D, PRSS56, PSMD1, PTMA, SAG, SNORC, SNORD20, SNORD82, SP100, SP110, SP140, SP140L, SPATA3, SPP2, TEX44, TIGD1, TRPM8, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, USP40 0 0 1 0 0 1
CC2D2A 1 0 0 0 0 1
CELSR2 0 1 0 0 0 1
CFAP184, LOC100129931 0 0 1 0 0 1
ENTPD1, TCTN3 0 0 1 0 0 1
IFT140 0 1 0 0 0 1
INTU, LOC123480930 1 0 0 0 0 1
INTU, LOC126807151 0 1 0 0 0 1
LOC126862246, TTC23 0 0 0 0 1 1
SCLT1 0 0 1 0 0 1
SCNM1 1 0 0 0 0 1
TMEM231 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 40 7 216 199 16 478
Fulgent Genetics, Fulgent Genetics 23 16 150 78 6 273
OMIM 42 0 0 0 0 42
Genome-Nilou Lab 0 0 0 0 23 23
Baylor Genetics 4 2 12 0 0 18
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 5 5 0 1 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 10 0 0 11
3billion 0 4 0 5 0 9
Revvity Omics, Revvity 0 5 2 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 2 5 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 4 0 0 0 6
Mendelics 5 0 1 0 0 6
UW Hindbrain Malformation Research Program, University of Washington 5 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 1 0 1 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 2 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 2 0 0 4
New York Genome Center 2 2 0 0 0 4
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 1 0 3
Department of Pediatrics, National Cheng-Kung University Hospital 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Illumina Laboratory Services, Illumina 0 1 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 1 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 2
Suma Genomics 1 0 1 0 0 2
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 1 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 0 1 0 0 1
Department of Genetics, Yale University 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Eurofins-Biomnis 0 1 0 0 0 1
Molecular Genetics, Sadra Medical Genetics Laboratory 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 1
Solve-RD Consortium 0 1 0 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.