ClinVar Miner

Variants studied for Multiple congenital exostosis

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
394 25 287 207 33 935

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 total
EXT1 392 25 276 206 31 919
EXT1, LOC130001002 0 0 4 1 2 7
EXT2 0 0 5 0 0 5
AARD, CCN3, COLEC10, EIF3H, ENPP2, EXT1, LINC00536, MAL2, MED30, RAD21, SAMD12, SLC30A8, TAF2, TNFRSF11B, TRPS1, UTP23 0 0 1 0 0 1
AARD, CCN3, COLEC10, EIF3H, ENPP2, EXT1, MAL2, MED30, RAD21, SAMD12, SLC30A8, TAF2, TNFRSF11B, UTP23 0 0 1 0 0 1
CCN3, COL14A1, COLEC10, DEPTOR, DSCC1, ENPP2, EXT1, MAL2, MRPL13, MTBP, SAMD12, SNTB1, TAF2, TNFRSF11B 1 0 0 0 0 1
EXT1, LOC124188206 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 388 18 256 203 25 890
Illumina Laboratory Services, Illumina 0 0 27 9 14 50
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 5 2 0 0 0 7
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 6 0 0 6
Baylor Genetics 1 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Department of Cell Biology, School of Life Sciences, Central South University 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
Department of Laboratory Medicine, Fuzhou Second Hospital Affiliated to Xiamen University 1 0 0 0 0 1
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 1

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