ClinVar Miner

Variants studied for synostosis

Included ClinVar conditions (106):
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
804 312 4775 3077 584 38 9308

Gene and significance breakdown #

Total genes and gene combinations: 104
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RECQL4 270 63 2534 1418 109 18 4372
SKI 19 10 322 350 34 0 708
FGFR1 32 21 244 261 54 0 571
IFT122 36 16 250 233 42 5 537
MEGF8 16 15 224 214 66 0 530
WDR35 29 12 258 160 54 1 483
LOC130001411, RECQL4 17 6 164 96 4 0 287
FGFR2 57 23 80 36 44 4 218
WDR19 7 11 131 42 23 2 205
RAB23 21 8 41 132 9 0 192
KAT6A 44 30 58 13 0 2 141
FGF9 2 2 67 4 33 0 108
TWIST1 48 11 38 10 5 0 108
ERF 24 11 26 29 15 0 103
SMAD6 45 7 21 0 0 0 72
FREM1 2 1 49 16 0 0 68
MSX2 3 0 36 3 26 1 68
TCF12 27 16 9 2 0 1 52
FGFR1, LOC102723716 0 0 30 3 14 0 46
IFT43 1 0 23 12 3 1 39
BAG2, RAB23 0 0 27 5 6 0 38
FGFR3 14 2 15 7 1 2 38
GDF5 2 2 11 3 19 0 37
LOC129998021, TWIST1 13 8 16 3 0 0 37
POR 13 4 10 3 7 0 35
CD96 3 0 18 2 1 0 24
IFT122, LOC126806810 0 1 6 8 2 0 14
IL11RA 7 4 2 0 0 0 12
NOG 7 2 1 0 0 0 10
GDF5, LOC109461476 0 0 4 0 5 0 9
IFT52 6 0 2 0 1 0 9
CYP26B1 2 1 5 0 0 0 8
LOC129933186, WDR35 0 0 4 2 1 0 7
MECOM 2 3 2 0 0 0 7
IFT122, LOC129937552 1 0 3 2 1 1 6
SMO 1 0 4 1 0 0 6
ADAMTSL4 3 1 1 0 0 0 5
RNU12 5 1 0 0 0 0 5
FGFR1, LOC130000233 0 0 3 0 1 0 4
TFAP2B 0 4 0 0 0 0 4
ZNF462 3 1 0 0 0 0 4
​intergenic 1 0 2 0 0 0 3
FGFR1, LOC130000232 0 0 2 0 1 0 3
GDF6 2 0 1 1 0 0 3
LOC130064579, MEGF8 0 0 2 1 0 0 3
ZIC1 1 1 1 0 0 0 3
ADAM9, ADGRA2, ADRB3, ASH2L, BAG4, BRF2, DDHD2, EIF4EBP1, ERLIN2, FGFR1, GOT1L1, HTRA4, LETM2, LINC03042, LSM1, NSD3, PLEKHA2, PLPBP, PLPP5, RAB11FIP1, STAR, TACC1, TM2D2 1 0 1 0 0 0 2
FREM1, LOC126860582 0 0 1 1 0 0 2
IFT140 2 0 0 0 0 0 2
IFT43, TGFB3 0 0 0 2 0 0 2
MATN3, WDR35, WDR35-DT 0 0 0 0 2 0 2
NPR2 0 2 0 0 0 0 2
PTCH1 0 0 2 0 0 0 2
SPECC1L, SPECC1L-ADORA2A 0 0 2 0 0 0 2
ACAP3, ACTRT2, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES5, INTS11, MIB2, MIR200A, MIR200B, MIR429, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, PANK4, PEX10, PLCH2, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TTC34, TTLL10, UBE2J2, VWA1 0 0 1 0 0 0 1
ACAP3, ACTRT2, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES5, INTS11, LRRC47, MEGF6, MIB2, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, PANK4, PEX10, PLCH2, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF4, TP73, TPRG1L, TTC34, UBE2J2, VWA1, WRAP73 0 0 1 0 0 0 1
ACO2, ADSL, CHADL, CSDC2, DESI1, DNAJB7, EP300, L3MBTL2, MCHR1, MEI1, MRTFA, PHF5A, PMM1, POLR3H, RANGAP1, RBX1, SGSM3, SLC25A17, SNU13, ST13, TEF, TNRC6B, TOB2, XPNPEP3, XRCC6, ZC3H7B 0 1 0 0 0 0 1
ACTMAP, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf47, CCDC97, CCNP, CD79A, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CLC, CNFN, COQ8B, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DYRK1B, EGLN2, EID2, EID2B, ERF, ERICH4, EXOSC5, FBL, FCGBP, GRIK5, GSK3A, HIPK4, HNRNPUL1, ITPKC, LEUTX, LGALS13, LGALS14, LGALS16, LIPE, LTBP4, LYPD4, MAP3K10, MEGF8, MIA, NUMBL, PAFAH1B3, PLD3, PLEKHG2, POU2F2, PRR19, PRX, PSMC4, RAB4B, RABAC1, RPS16, RPS19, SELENOV, SERTAD1, SERTAD3, SHKBP1, SNRPA, SPTBN4, SUPT5H, TGFB1, TIMM50, TMEM145, TMEM91, TTC9B, ZNF526, ZNF546, ZNF574, ZNF780A, ZNF780B 0 0 1 0 0 0 1
ADAM19, ADAMTS2, ADRA1B, ANXA6, ARHGEF37, ARL10, ARSI, ATOX1, ATP10B, ATP6V0E1, B4GALT7, BNIP1, BOD1, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf47, C5orf52, C5orf58, C5orf60, CAMK2A, CANX, CBY3, CCDC69, CCNG1, CCNJL, CD74, CDHR2, CDX1, CLINT1, CLK4, CLTB, CNOT6, CNOT8, COL23A1, CPEB4, CPLX2, CREBRF, CSF1R, CYFIP2, DBN1, DCTN4, DDX41, DOCK2, DOK3, DRD1, DUSP1, EBF1, EFCAB9, EIF4E1B, ERGIC1, F12, FABP6, FAF2, FAM114A2, FAM153A, FAM153B, FAM193B, FAM200C, FAT2, FAXDC2, FBXW11, FGF18, FGFR4, FLT4, FNDC9, FOXI1, G3BP1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GALNT10, GARIN3, GEMIN5, GFPT2, GLRA1, GM2A, GPRIN1, GPX3, GRIA1, GRK6, GRM6, HAND1, HAVCR1, HAVCR2, HIGD2A, HK3, HMGXB3, HMMR, HNRNPAB, HNRNPH1, HRH2, IL12B, INSYN2B, IRGM, ITK, KCNIP1, KCNMB1, KIAA1191, KIF4B, LARP1, LCP2, LMAN2, LOC100128059, LOC100288254, LSM11, LTC4S, MAML1, MAPK9, MAT2B, MED7, MFAP3, MGAT1, MGAT4B, MIR103A1, MIR146A, MIR378A, MRNIP, MRPL22, MSX2, MXD3, MYOZ3, N4BP3, NDST1, NEURL1B, NHP2, NIPAL4, NKX2-5, NMUR2, NOP16, NPM1, NSD1, NUDCD2, OR2V1, OR2V2, OR2Y1, PANK3, PDE6A, PDGFRB, PDLIM7, PFN3, PHYKPL, PPARGC1B, PRELID1, PROP1, PRR7, PTTG1, PWWP2A, RAB24, RACK1, RANBP17, RARS1, RASGEF1C, RBM22, RGS14, RMND5B, RNF130, RNF145, RNF44, RPL26L1, RPS14, RUFY1, SAP30L, SCGB3A1, SFXN1, SGCD, SH3PXD2B, SIMC1, SLC26A2, SLC34A1, SLC36A1, SLC36A2, SLC36A3, SLC6A7, SLIT3, SLU7, SMIM23, SMIM3, SNCB, SNORA74B, SOX30, SPARC, SPDL1, SQSTM1, STC2, STK10, SYNPO, TBC1D9B, TCOF1, TENM2, THG1L, THOC3, TIGD6, TIMD4, TLX3, TMED9, TNIP1, TRIM41, TRIM52, TRIM7, TRK-CTT2-3, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TSPAN17, TTC1, UBLCP1, UBTD2, UIMC1, UNC5A, WWC1, ZFP2, ZFP62, ZNF300, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 1 0 0 0 0 0 1
ADAMTSL1, BNC2, CCDC171, CER1, CNTLN, FREM1, NFIB, PSIP1, SH3GL2, SNAPC3, TTC39B, ZDHHC21 1 0 0 0 0 0 1
AGMO, AGR2, AGR3, AHR, ANKMY2, BZW2, CRPPA, DGKB, FERD3L, HDAC9, ITGB8, LRRC72, MACC1, MEOX2, POLR1F, PRPS1L1, SNX13, SOSTDC1, TMEM196, TSPAN13, TWIST1 1 0 0 0 0 0 1
ALG6, DLEU2L, EFCAB7, FOXD3, ITGB3BP, LOC121725027, LOC129930667, LOC129930668, LOC129930669, LOC129930670, PGM1 0 0 1 0 0 0 1
ARHGAP39, C8orf82, LRRC14, LRRC24, RECQL4, ZNF251 1 0 0 0 0 0 1
ATP1A3, DEDD2, ERF, GRIK5, GSK3A, LNROP, LOC111811970, LOC125371523, LOC125371524, LOC130064540, LOC130064541, LOC130064542, LOC130064543, LOC130064544, LOC130064545, LOC130064546, LOC130064547, LOC130064548, LOC130064549, LOC130064550, LOC130064551, LOC130064552, LOC130064553, LOC130064554, LOC130064555, LOC130064556, LOC130064557, LOC130064558, LOC130064559, LOC130064560, LOC130064561, LOC130064562, LOC130064563, LOC130064564, LOC130064565, LOC130064566, LOC130064567, LOC130064568, MIR4323, POU2F2, RABAC1, ZNF526, ZNF574 1 0 0 0 0 0 1
AXIN2 0 0 1 0 0 0 1
CIC, DEDD2, ERF, GRIK5, GSK3A, LNROP, LOC111501767, LOC111811970, LOC125371523, LOC125371524, LOC130064545, LOC130064546, LOC130064547, LOC130064548, LOC130064549, LOC130064550, LOC130064551, LOC130064552, LOC130064553, LOC130064554, LOC130064555, LOC130064556, LOC130064557, LOC130064558, LOC130064559, LOC130064560, LOC130064561, LOC130064562, LOC130064563, LOC130064564, LOC130064565, LOC130064566, LOC130064567, LOC130064568, LOC130064569, LOC130064570, LOC130064571, LOC130064572, LOC130064573, MIR4323, PAFAH1B3, POU2F2, ZNF526, ZNF574 1 0 0 0 0 0 1
CILK1 1 0 0 0 0 0 1
CLASP1, RNU4ATAC 0 0 1 0 0 0 1
CMPK2, RNF144A, RSAD2, SOX11 0 1 0 0 0 0 1
CNPY2 0 1 0 0 0 0 1
CTNNA1 0 1 0 0 0 0 1
DEDD2, ERF, GSK3A, ZNF526 1 0 0 0 0 0 1
DHRS3 0 0 1 0 0 0 1
FBN1 0 0 1 0 0 0 1
FBN2 0 0 1 0 0 0 1
FERD3L, TWIST1 1 0 0 0 0 0 1
GLI2 0 1 0 0 0 0 1
GLI3 1 0 0 0 0 0 1
GPC4 0 1 0 0 0 0 1
GPT, MFSD3, RECQL4 0 0 1 0 0 0 1
GRIN2B 0 1 0 0 0 0 1
HDAC9, PRPS1L1, SNX13 0 1 0 0 0 0 1
HNMT, LRP1B, NXPH2, SPOPL 0 1 0 0 0 0 1
IFT122, MBD4 0 0 1 0 0 0 1
IFT122, MBD4, RHO 0 0 1 0 0 0 1
IGF1R 0 0 1 0 0 0 1
KAT6B 0 0 1 0 0 0 1
LOC112577524, LOC121967049, LOC126805579, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, SKI 0 0 1 0 0 0 1
LOC112939934, WDR19 0 0 1 0 0 0 1
LOC126860075, POR 1 0 1 0 0 0 1
LRRC14, RECQL4 1 0 0 0 0 0 1
MAN2B1 1 0 0 0 0 0 1
MATN3, WDR35 0 0 0 1 1 0 1
MEGF8, MIR8077 0 0 0 1 0 0 1
MSX1 0 0 1 0 0 0 1
MYH7 0 0 1 0 0 0 1
PRRX1 0 0 1 0 0 0 1
RUNX2 0 0 1 0 0 0 1
SOX11 0 1 0 0 0 0 1
SPAG17 0 1 0 0 0 0 1
TCF20 1 0 0 0 0 0 1
TCOF1 1 0 0 0 0 0 1
TGFBR1 0 0 1 0 0 0 1
TRPS1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 154
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 458 113 3792 2847 349 0 7559
Illumina Laboratory Services, Illumina 3 0 553 107 243 0 885
Fulgent Genetics, Fulgent Genetics 32 24 366 145 10 0 577
OMIM 165 0 0 0 0 0 165
Baylor Genetics 17 6 54 0 0 0 77
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 45 10 22 0 0 0 77
Genome-Nilou Lab 0 1 0 2 67 0 70
Revvity Omics, Revvity 6 2 42 0 0 0 50
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 24 5 14 3 0 0 46
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 33 7 1 0 0 0 41
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 15 15 0 36
Klinisk genetik och genomik Research, Gothenburg University 3 12 17 0 0 0 32
GeneReviews 0 0 0 0 0 28 28
Juno Genomics, Hangzhou Juno Genomics, Inc 10 11 6 0 0 0 27
3billion 14 5 2 6 0 0 27
Mendelics 5 5 4 7 3 0 24
Department of Medical Genetics, Oslo University Hospital 12 11 0 0 0 0 23
Natera, Inc. 2 0 5 10 3 0 20
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 8 8 0 0 0 20
Neuberg Centre For Genomic Medicine, NCGM 6 1 11 0 0 0 18
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 5 7 1 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 8 1 7 1 0 0 17
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 1 7 0 0 0 13
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 10 1 1 0 0 0 12
New York Genome Center 0 0 12 0 0 0 12
Wilkie Group, Clinical Genetics Lab, WIMM, University of Oxford 5 4 3 0 0 0 12
Yale Center for Mendelian Genomics, Yale University 2 9 0 0 0 0 11
MGZ Medical Genetics Center 2 4 3 1 0 0 10
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 9 0 1 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 0 1 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 5 0 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 4 0 0 0 0 9
Johns Hopkins Genomics, Johns Hopkins University 6 2 0 1 0 0 9
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 6 1 0 1 0 0 8
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 7 0 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 3 1 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 5 2 0 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 4 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 5 1 0 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 0 0 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 0 2 0 0 0 6
MVZ Medizinische Genetik Mainz 0 2 4 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 1 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 2 0 0 0 5
Database of Curated Mutations (DoCM) 0 5 0 0 0 0 5
SIB Swiss Institute of Bioinformatics 2 1 1 0 1 0 5
Genomic Medicine Lab, University of California San Francisco 2 1 2 0 0 0 5
Clinical Genomics Laboratory, Stanford Medicine 1 3 1 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
UF de Génétique Moléculaire, Hôpital Lariboisière 4 0 0 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 1 1 2 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 0 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 1 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 2 0 0 0 0 4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 4 0 0 0 0 0 4
Kids Neuroscience Centre, Sydney Children's Hospitals Network 2 1 1 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 2 2 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 1 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 1 0 0 0 3
Centogene AG - the Rare Disease Company 0 0 3 0 0 0 3
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 2 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 1 0 0 0 3
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 3 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 1 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 1 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 1 0 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 1 1 1 0 0 0 3
Muenke lab, National Institutes of Health 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 2 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 1 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 2 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 2 0 0 0 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 1 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 1 0 0 0 2
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 2 0 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 1 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 2
Laboratorio de Citogenómica y Microarreglos, Universidad Autonoma de Nuevo Leon 0 2 0 0 0 0 2
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 2 0 0 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 0 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 2 0 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 0 2
DASA 2 0 0 0 0 0 2
Cunningham Lab, Seattle Childrens Research Institute 2 0 0 0 0 0 2
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 2 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 1 0 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 2 0 0 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 1
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Laboratory of Molecular Genetics, CHU RENNES 0 0 1 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 1 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 1 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 0 1 0 0 0 0 1
Department of Human Genetics, University Hospital Magdeburg 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
NYU Undiagnosed Diseases Program, NYU School of Medicine 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 0 1 0 0 0 0 1
Precision Medicine Center, Zhengzhou University 1 0 0 0 0 0 1
Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province 0 1 0 0 0 0 1
Department of Genetics and Metabolic disease, Clinical hospital Center Osijek 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Skeletal Dysplasia Laboratory, Hospital Universitario La Paz 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Insititute of Human Genetics, University Giessen, Germany 0 1 0 0 0 0 1
Department of Genetics, Beijing BioBiggen Technology Co., Ltd. 1 0 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 1
Neonatology Unit, University Hospital of Modena 0 1 0 0 0 0 1
Human Molecular Genetics Laboratory NIBGE Faisalabad, National Institute for Biotechnology and Genetic Engineering Faisalabad 1 0 0 0 0 0 1
Human Genetics, University of Luebeck 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Medical Genetics Laboratory, Etlik City Hospital 1 0 0 0 0 0 1

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