ClinVar Miner

Variants studied for connective tissue neoplasm

Included ClinVar conditions (133):
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 association risk factor other not provided total
1143 662 2779 1360 375 29 1 2 99 6269

Gene and significance breakdown #

Total genes and gene combinations: 183
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
CEBPA 32 15 570 259 13 0 0 0 11 889
EXT1 359 33 291 165 29 0 0 0 0 857
EXT2 146 19 272 189 52 0 0 0 1 641
NF1 99 68 353 83 1 0 0 0 0 603
MPL 99 28 96 344 15 0 0 0 0 575
CDH23 42 115 102 12 11 0 0 0 0 279
CASR 20 11 112 32 19 0 0 0 4 197
CDC73 14 4 128 37 25 0 0 0 0 185
ANTXR2 16 14 101 16 29 0 0 0 0 174
MTAP 0 0 65 6 56 0 0 0 0 124
AIP 9 9 47 11 15 0 0 0 49 123
TP53 29 70 17 5 8 0 0 0 0 123
APC 26 2 68 10 3 0 0 0 1 110
PTPN11 39 10 29 18 14 0 0 0 0 108
RUNX1 7 12 55 6 10 0 0 0 0 87
FGFR1 4 7 43 26 2 0 0 0 2 80
CBL 4 5 42 5 15 0 0 0 0 68
CHEK2 12 5 50 1 0 0 0 0 0 68
GNAS 12 0 11 33 2 0 0 0 0 57
EXT2, LOC126861201 3 1 30 22 1 0 0 0 0 56
GATA2 1 3 47 1 0 0 0 0 0 52
TERT 1 2 19 17 14 0 0 0 0 52
CEBPA, LOC130064183 0 0 32 11 0 0 0 0 0 43
FLT3 12 27 0 0 0 0 0 0 1 39
NSDHL 10 5 7 9 2 0 0 0 4 34
ABL1 2 26 0 5 0 1 0 0 1 33
C10orf105, CDH23 5 13 9 0 2 0 0 0 0 29
MED12 0 0 0 0 0 28 0 0 0 28
NPM1 8 4 12 2 0 0 0 0 0 26
KRAS 9 6 4 6 0 0 0 0 5 25
AIP, LOC130006206 0 0 13 1 4 0 0 0 9 24
GCM2 2 3 13 6 0 0 0 0 0 23
KIT 3 3 13 3 0 0 0 0 1 23
PDGFRB 2 0 1 2 13 0 0 0 0 18
DNMT3A 7 7 2 0 1 0 0 0 0 16
NRAS 5 15 0 0 0 0 0 0 0 15
HRAS, LRRC56 0 13 0 0 0 0 0 0 0 13
SF3B1 2 13 0 0 0 0 0 0 0 13
ALK 0 0 11 1 0 0 0 0 0 12
BRCA2 1 0 10 0 0 0 0 0 0 11
GATA1 11 0 0 0 0 0 0 0 0 11
INSL6, JAK2 2 4 3 1 1 0 0 0 2 11
RB1 3 0 7 1 0 0 0 0 0 11
IDH2 6 2 2 0 0 0 0 0 0 10
EXT2, LOC130005598 0 0 3 0 6 0 0 0 0 9
IDH1 6 2 1 0 0 0 0 0 0 8
MEN1 2 2 0 1 3 0 0 0 0 8
BCR 0 0 4 1 0 0 0 0 2 7
EXT1, LOC130001002 0 0 4 1 2 0 0 0 0 7
HIF1A 0 7 0 0 0 0 0 0 0 7
JAK3 0 7 0 0 0 0 0 0 0 7
NSD1 3 1 3 0 0 0 0 0 0 7
DDX41 4 2 0 0 0 0 0 0 0 6
LOC111811965, MIR4733HG, NF1 1 0 4 1 0 0 0 0 0 6
PALB2 0 0 6 0 0 0 0 0 0 6
TCF3 0 3 3 0 0 0 0 0 0 6
USP8 5 0 1 0 0 0 0 0 0 6
CBL, LOC130006895 0 0 1 3 1 0 0 0 0 5
CDH23, LOC111982869 2 2 1 0 0 0 0 0 0 5
CTNNB1, LOC126806658 1 5 0 0 0 0 0 0 0 5
SH2B3 1 0 3 0 1 0 0 0 0 5
ITPKB 1 2 1 0 0 0 0 0 0 4
MIR181A1HG 4 0 0 0 0 0 0 0 0 4
PDGFB 1 0 1 1 2 0 0 0 0 4
PTEN 2 2 0 0 0 0 0 0 0 4
U2AF1 0 4 0 0 0 0 0 0 0 4
ARHGAP26 3 0 0 0 0 0 0 0 0 3
ASXL1 2 0 1 0 0 0 0 0 0 3
CDKN2A 0 0 3 0 0 0 0 0 0 3
KDM4C 0 0 3 0 0 0 0 0 0 3
LOC107303340, VHL 1 2 0 0 0 0 0 0 0 3
LOC110806263, TERT 0 0 3 0 0 0 0 0 0 3
PDGFRA 1 2 0 0 0 0 0 0 0 3
SRC 1 1 2 0 0 0 0 0 0 3
TSC1 0 0 3 0 0 0 0 0 0 3
VHL 0 3 0 0 0 0 0 0 0 3
​intergenic 1 0 1 0 0 0 0 0 0 2
ANTXR2, LOC129992737 0 0 1 0 1 0 0 0 0 2
ANTXR2, LOC129992738 0 0 1 0 1 0 0 0 0 2
B3GALT2, CDC73 0 0 1 1 0 0 0 0 0 2
CBFA2T3 2 0 0 0 0 0 0 0 0 2
CBL, FRA11B, LOC130006894 0 0 2 0 0 0 0 0 0 2
CSF3R 0 2 0 0 0 0 0 0 0 2
CTCF 0 2 0 0 0 0 0 0 0 2
ERCC2 0 1 0 0 0 0 0 0 1 2
ERVFRD-3, MTAP 2 0 0 0 0 0 0 0 0 2
ETV6 1 0 0 0 0 0 0 0 1 2
FGFR3 0 2 0 0 0 0 0 0 0 2
GNAI2 1 0 1 0 0 0 0 0 0 2
GPR101 2 0 1 0 0 0 0 0 2 2
ITPKB, LOC129932672 0 1 0 1 0 0 0 0 0 2
LOC129934333, TMEM127 0 0 2 0 0 0 0 0 0 2
LPP 1 0 1 0 0 0 0 0 0 2
MFN2 1 0 1 0 0 0 0 0 0 2
MFSD11, SRSF2 1 1 0 0 0 0 0 0 0 2
MN1 0 2 0 0 0 0 0 0 0 2
NOTCH1 2 0 0 0 0 0 0 0 0 2
PCSK7 0 0 2 0 0 0 0 0 0 2
PTCH1 0 0 2 0 0 0 0 0 0 2
RECQL4 1 1 0 0 0 0 0 0 0 2
SETD2 0 2 0 0 0 0 0 0 0 2
SUFU 0 1 1 0 0 0 0 0 0 2
TET2 1 0 1 0 0 0 0 0 0 2
WT1 0 1 1 0 0 0 0 0 0 2
AARD, CCN3, COLEC10, EIF3H, ENPP2, EXT1, MAL2, MED30, RAD21, SAMD12, SLC30A8, TAF2, TNFRSF11B, UTP23 0 0 1 0 0 0 0 0 0 1
ACP3 0 0 1 0 0 0 0 0 0 1
ACTL6A 0 1 0 0 0 0 0 0 0 1
ADGRG2, MAP3K15, PDHA1, SH3KBP1 0 0 1 0 0 0 0 0 0 1
AIP, LOC130006204 0 1 0 0 0 0 0 0 0 1
AIP, LOC130006204, LOC130006205, LOC130006206, LOC130006207 0 1 0 0 0 0 0 0 0 1
AIP, LOC130006206, LOC130006207 0 1 0 0 0 0 0 0 0 1
AKT1 0 1 0 0 0 0 0 0 0 1
ANXA13, ATAD2, C8orf76, CCN3, COL14A1, COLEC10, DEPTOR, DERL1, DSCC1, ENPP2, EXT1, FAM83A, FAM91A1, FBXO32, FER1L6, HAS2, KLHL38, MAL2, MED30, MRPL13, MTBP, MTSS1, NDUFB9, NSMCE2, NTAQ1, RNF139, SAMD12, SLC30A8, SNTB1, SQLE, TAF2, TATDN1, TBC1D31, TMEM65, TNFRSF11B, TRIB1, TRMT12, WASHC5, ZHX1, ZHX1-C8orf76, ZHX2, ZNF572 1 0 0 0 0 0 0 0 0 1
APC, LOC129994371 0 0 1 0 0 0 0 0 0 1
ARID1B 1 0 0 0 0 0 0 0 0 1
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, LOC126862036, LOC126862037, LOC126862038, LOC129390666, LOC130056381, LOC130056382, LOC130056383, LOC130056384, LOC130056385, LOC130056386, LOC130056387, LOC130056388, LOC130056389, LOC130056390, LOC130056391, LOC130056392, LOC130056393, LOC130056394, LOC130056395, LOC130056396, LOC130056397, LOC132090293, LOC132090294, TCL1A, TUNAR 0 1 0 0 0 0 0 0 0 1
ATM 1 0 0 0 0 0 0 0 0 1
ATRX 1 0 0 0 0 0 0 0 0 1
B3GALT2, CDC73, GLRX2, LINC01031, LINC02770, LOC111556116, LOC120893169, LOC122149332, LOC122149333, LOC122149334, LOC126805961, LOC126805962, LOC129388703, LOC129388704, LOC129388705, LOC129388706, LOC129388707, LOC129388708, LOC129388709, LOC129388710, LOC129388711, LOC129388712, LOC129388713, LOC129932134, LOC129932135, LOC129932136, LOC129932137, LOC129932138, LOC129932139, LOC129932140, LOC129932141, LOC129932142, LOC129932143, LOC129932144, LOC129932145, LOC129932146, LOC129932147, LOC129932148, LOC129932149, LOC129932150, LOC129932151, LOC132088601, LOC132088602, LOC132090670, MIR1278, MIR4426, RGS1, RGS13, RGS18, RGS2, RGS21, RO60, SCARNA18B, UCHL5 1 0 0 0 0 0 0 0 0 1
BCAN, BGLAP, CCT3, CRABP2, GLMP, GPATCH4, HAPLN2, HDGF, INSRR, IQGAP3, ISG20L2, LMNA, MEF2D, METTL25B, MIR9-1, MIR9-1HG, MRPL24, NAXE, NES, NTRK1, PAQR6, PMF1, PMF1-BGLAP, PRCC, RHBG, SEMA4A, SH2D2A, SLC25A44, SMG5, TMEM79, TSACC, TTC24, VHLL 1 0 0 0 0 0 0 0 0 1
BCOR 1 0 0 0 0 0 0 0 0 1
BCR, LOC107963955 0 0 0 0 0 0 0 0 1 1
BRAF 0 1 0 0 0 0 0 0 0 1
CALR 1 0 0 0 0 0 0 0 0 1
CBFB 0 0 1 0 0 0 0 0 0 1
CDH23, VSIR 0 0 0 1 0 0 0 0 0 1
CEBPA, GPATCH1, LRP3, RHPN2, SLC7A10, WDR88 0 0 1 0 0 0 0 0 0 1
COL2A1 0 1 0 0 0 0 0 0 0 1
CORO7, CORO7-PAM16 0 0 1 0 0 0 0 0 0 1
CSF1R 0 1 0 0 0 0 0 0 0 1
CUX1 0 0 1 0 0 0 0 0 0 1
CUX2, SH2B3 0 0 0 1 0 0 0 0 0 1
DHFR, MSH3 0 0 1 0 0 0 0 0 0 1
DLX3 0 1 0 0 0 0 0 0 0 1
DNAJC21 1 0 0 0 0 0 0 0 0 1
EPOR 0 1 0 0 0 0 0 0 0 1
ERBB3 0 1 0 0 0 0 1 0 0 1
ETV6, FLT3 0 1 0 0 0 0 0 0 0 1
ETV6, LOC126861451 1 0 0 0 0 0 0 0 0 1
EVI2A, NF1 1 0 0 0 0 0 0 0 0 1
EXT1, LOC124188206 1 0 0 0 0 0 0 0 0 1
EXT2, LOC130005600, LOC130005601 1 0 0 0 0 0 0 0 0 1
FANCD2, LOC107303338 1 0 0 0 0 0 0 0 0 1
FH 0 1 0 0 0 0 0 0 0 1
FLT3, MYO18A 0 1 0 0 0 0 0 0 0 1
GLI2 0 0 1 0 0 0 0 0 0 1
HMGA2 0 0 1 0 0 0 0 0 0 1
IKZF1 0 0 1 0 0 0 0 0 0 1
IL18BP, NUMA1 0 0 0 1 0 0 0 0 0 1
JAK1 0 1 0 0 0 0 0 0 0 1
JAK1, LOC126805749 0 1 0 0 0 0 0 0 0 1
KDM5A, NUP98 1 0 0 0 0 0 0 0 0 1
KLK2 1 0 0 0 0 0 0 0 0 1
KMT2A, MLLT6 1 0 0 0 0 0 0 0 0 1
KMT2A, SEPTIN9 1 0 0 0 0 0 0 0 0 1
KMT2D 0 1 0 0 0 0 0 0 0 1
LOC100128494, NUMA1 0 0 0 1 0 0 0 0 0 1
LOC100507346, PTCH1 0 0 1 0 0 0 0 0 0 1
LOC126805969, MIR181A1HG 1 0 0 0 0 0 0 0 0 1
LOC126807054, PDGFRA 0 1 0 0 0 0 0 0 0 1
LOC126807619, NSD1 1 0 0 0 0 0 0 0 0 1
LOC130002133, PTCH1 0 0 1 0 0 0 0 0 0 1
LOC130003020, NOTCH1 1 0 0 0 0 0 0 0 0 1
LRP2 0 1 0 0 0 0 0 0 0 1
MDGA1 0 0 1 0 0 0 0 0 0 1
MET, RBPMS 0 0 0 0 0 0 0 1 0 1
MLLT10 0 0 1 0 0 0 0 0 0 1
MT-ND6 0 0 1 0 0 0 0 0 0 1
NUP214 0 0 1 0 0 0 0 0 0 1
PCF11 0 0 1 0 0 0 0 0 0 1
PMS2 0 1 0 0 0 0 0 0 0 1
RAD21 0 1 0 0 0 0 0 0 0 1
RASAL3 0 0 1 0 0 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 1 0 0 0 0 0 0 0 0 1
SETBP1 0 0 0 0 0 0 0 0 1 1
SF3B2 0 1 0 0 0 0 0 0 0 1
SH3GL1 0 0 0 0 1 0 0 0 0 1
SLC9A2 0 0 1 0 0 0 0 0 0 1
SOX3 0 0 1 0 0 0 0 0 0 1
SUZ12 0 1 0 0 0 0 0 0 0 1
TEK 0 1 0 0 0 0 0 0 0 1
TGM6 1 0 0 0 0 0 0 0 0 1
TSC2 0 0 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 142
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
Invitae 585 48 1147 960 89 0 0 0 0 2829
Fulgent Genetics, Fulgent Genetics 141 50 676 288 27 0 0 0 0 1182
Baylor Genetics 136 198 579 1 0 0 0 0 0 914
Illumina Laboratory Services, Illumina 1 0 362 92 184 0 0 0 0 617
Database of Curated Mutations (DoCM) 30 211 0 0 0 0 0 0 5 245
OMIM 147 0 0 0 0 0 1 0 0 148
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 31 89 1 0 0 0 122
GeneReviews 0 8 0 1 0 0 0 0 81 90
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 6 7 63 3 0 0 0 0 0 79
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 22 2 15 3 1 0 0 0 0 43
Nadeem Sheikh Lab, University of the Punjab 7 6 19 0 0 0 0 0 0 32
Rajkovic Lab, University of Pittsburgh 0 0 0 0 0 28 0 0 0 28
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 14 11 0 0 0 0 0 0 0 25
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 2 15 8 0 0 0 0 0 0 25
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 7 11 4 1 0 0 0 0 0 23
Ayesha Lab, University of the Punjab 0 6 11 0 6 0 0 0 0 23
Genome-Nilou Lab 0 0 0 0 21 0 0 0 0 21
Mendelics 4 2 6 2 4 0 0 0 0 18
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 2 11 0 0 0 0 0 0 17
Integrative Tumor Epidemiology Branch, National Institutes of Health 1 0 16 0 0 0 0 0 0 17
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 15 1 0 0 0 0 0 0 0 16
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 6 8 1 0 0 0 0 0 0 15
Genetics and Molecular Pathology, SA Pathology 2 6 3 1 0 0 0 0 0 12
Genetic Services Laboratory, University of Chicago 7 4 0 0 0 0 0 0 0 11
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 9 2 0 0 0 0 0 0 0 11
NIHR Bioresource Rare Diseases, University of Cambridge 4 7 0 0 0 0 0 0 0 10
McDonnell Genome Institute, Washington University in St. Louis 2 0 7 0 0 0 0 0 0 9
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 4 3 2 0 0 0 0 0 0 9
Revvity Omics, Revvity 1 2 5 0 0 0 0 0 0 8
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 2 2 0 0 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 4 2 2 0 0 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 4 2 0 0 0 0 0 0 8
MGZ Medical Genetics Center 3 3 1 0 0 0 0 0 0 7
Johns Hopkins Genomics, Johns Hopkins University 0 1 6 0 0 0 0 0 0 7
3billion 3 4 0 0 0 0 0 0 0 7
Sung Lab, Department of Medicine, Roswell Park Comprehensive Cancer Center 7 0 0 0 0 0 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 2 0 0 0 0 0 0 0 6
Fujian Institute of Hematology, Fujian Medical University 6 0 0 0 0 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 6 6
Molecular Diagnostics Laboratory, University of Rochester Medical Center 5 1 0 0 0 0 0 0 0 6
Hematological Lab, University of Education 6 0 0 0 0 0 0 0 0 6
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 0 0 0 1 5 0 0 0 0 6
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 5 0 0 0 0 0 0 0 0 5
Bone Marrow Failure laboratory, Queen Mary University London 2 3 0 0 0 0 0 0 0 5
Center for Personalized Medicine, Children's Hospital Los Angeles 4 0 1 0 0 0 0 0 0 5
Institute of Laboratory Medicine, Hospital Wels-Grieskirchen 4 0 1 0 0 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 0 0 0 0 0 0 0 4
Genome Sciences Centre, British Columbia Cancer Agency 0 3 1 0 0 0 0 0 0 4
Aziz Sancar Institute of Experimental Medicine, Istanbul University 2 2 0 0 0 0 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 4 0 0 0 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 3 0 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 4 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 1 0 0 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 3 0 0 0 0 0 0 0 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 1 0 0 0 0 0 0 0 4
Molecular Genetics Lab, CHRU Brest 2 2 0 0 0 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 2 0 0 0 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 1 1 0 0 0 0 0 0 4
Druker Lab, Oregon Health and Sciences University 3 0 1 0 0 0 0 0 0 4
Cancer Genetics Lab, University of Education 4 0 0 0 0 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 0 0 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 0 0 0 3
Laboratory of Molecular Diagnostics and Monitoring of CML and Ph+ Leukemias, Institute of Hematology and Blood Transfusion 0 0 0 0 0 0 0 0 3 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 1 1 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 1 0 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 1 0 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 1 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 0 0 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 0 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 1 0 0 0 0 0 0 2
Korbonits Lab, Queen Mary University of London 0 1 1 0 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 2 0 0 0 0 2
Knight Cancer Institute, Oregon Health and Science University 0 2 0 0 0 0 0 0 0 2
Breda Genetics srl 2 0 0 0 0 0 0 0 0 2
Molecular Haematology Laboratory, NSW Health Pathology 2 0 0 0 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 0 0 0 0 0 0 0 0 2
Godley laboratory, The University of Chicago 2 0 0 0 0 0 0 0 0 2
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 0 0 2 0 0 0 0 0 0 2
Department of Cell Biology, School of Life Sciences, Central South University 2 0 0 0 0 0 0 0 0 2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 1 0 0 0 0 0 0 2
Hematopathology, The University of Texas M.D. Anderson Cancer Center 2 0 0 0 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 0 0 0 1
INSERM UMR 1170, INSERM 0 1 0 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, Zhongshan School of Medicine and Center for Genome Research, Sun Yat-Sen University 1 0 0 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 0 0 1 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 0 0 1
Labor Lademannbogen MVZ GmbH 0 1 0 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 0 0 0 1
Clinical Genetics Department, Hospital Sant Joan de Deu 1 0 0 0 0 0 0 0 0 1
Clinical Bioinformatic Lab, Royan Institute 0 1 0 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 0 0 0 1
Genomics For Life 1 0 0 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 0 0 0 1
Pediatric Leukemia/Lymphoma, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 0 0 1
Laboratory Oncology Unit, Dr.B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences 0 0 1 0 0 0 0 0 0 1
Michigan Center for Translational Pathology, University of Michigan 1 0 0 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 0 0 1
University Health Network, Princess Margaret Cancer Centre 1 0 0 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 0 0 1
Department of Laboratory Medicine, Fuzhou Second Hospital Affiliated to Xiamen University 1 0 0 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 0 0 1
Malcovati Lab, University of Pavia 0 0 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 0 0 1
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 0 0 1
Department of Zoology, Division of Science and Technology, University of Education 1 0 0 0 0 0 0 0 0 1
Center for Comprehensive Genetic Services, Baqiyatallah University of Medical Sciences 0 1 0 0 0 0 0 0 0 1
Dr. Afia Zoology Lab, University of Education 0 0 0 0 1 0 0 0 0 1
Research and Counseling Department, Research Centre for Medical Genetics 0 0 0 1 0 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 1 0 0 0 0 0 0 1
Shandong Key Laboratory of Immunohematology, Qilu Hospital, Shandong University 1 0 0 0 0 0 0 0 0 1
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 1 0 0 0 0 0 0 1

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