ClinVar Miner

Variants studied for achondrogenesis

Included ClinVar conditions (18):
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
200 143 601 524 122 3 1477

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC26A2 123 105 237 295 33 0 716
TRIP11 47 13 311 209 74 0 615
COL2A1 26 23 20 12 3 3 87
GDF5 4 2 21 7 9 0 43
GDF5, LOC109461476 0 0 4 1 3 0 8
LOC129994976, SLC26A2 0 0 7 0 0 0 7
ASB2, ATXN3, BTBD7, CALM1, CATSPERB, CCDC88C, CHGA, COX8C, CPSF2, DDX24, DGLUCY, FAM181A, FBLN5, GOLGA5, GON7, GPR68, IFI27, IFI27L1, IFI27L2, ITPK1, KCNK13, LGMN, LYSET, MOAP1, NDUFB1, NRDE2, OTUB2, PPP4R3A, PPP4R4, PRIMA1, PSMC1, RIN3, RPS6KA5, SERPINA1, SERPINA10, SERPINA2, SERPINA6, SLC24A4, TC2N, TDP1, TRIP11, TTC7B, UBR7, UNC79 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 152 19 348 472 67 0 1058
Illumina Laboratory Services, Illumina 0 0 243 41 84 0 368
Baylor Genetics 16 72 6 0 0 0 94
Natera, Inc. 6 3 21 11 7 0 48
Fulgent Genetics, Fulgent Genetics 9 4 12 15 3 0 43
Counsyl 1 22 0 0 0 0 23
OMIM 21 0 0 0 0 0 21
Juno Genomics, Hangzhou Juno Genomics, Inc 6 4 6 0 0 0 16
Genome-Nilou Lab 0 0 6 1 4 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 5 0 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 4 0 0 0 9
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 3 5 0 0 0 0 8
Myriad Genetics, Inc. 3 2 0 0 0 0 5
SIB Swiss Institute of Bioinformatics 3 1 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 0 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 1 0 0 0 3
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 1 1 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 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
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS) 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
3billion 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Genetic Laboratory, Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 0 1

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