ClinVar Miner

Variants studied for syndromic craniosynostosis

Included ClinVar conditions (70):
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
751 391 4992 3025 481 38 9391

Gene and significance breakdown #

Total genes and gene combinations: 66
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RECQL4 270 64 2534 1418 109 18 4373
SKI 19 10 323 350 34 0 709
IFT122 36 35 380 234 42 5 676
WDR35 29 27 356 161 54 1 587
FGFR1 31 23 241 257 35 0 560
MEGF8 16 18 225 214 66 0 533
WDR19 10 39 232 42 23 2 338
LOC130001411, RECQL4 17 6 164 96 4 0 287
FGFR2 58 20 131 40 44 4 270
RAB23 21 12 41 132 9 0 196
KAT6A 44 30 60 13 0 2 144
TWIST1 48 11 37 10 5 0 107
ZNF462 29 12 35 2 5 0 82
IFT43 1 9 42 15 3 1 69
MSX2 3 1 36 2 25 1 67
POR 17 22 10 3 7 0 55
TCF12 26 15 9 2 0 1 50
FGFR3 16 2 17 5 1 2 41
BAG2, RAB23 0 0 27 5 6 0 38
LOC129998021, TWIST1 11 8 14 3 0 0 34
ERF 11 10 5 0 0 0 25
CD96 2 0 19 2 1 0 24
IFT122, LOC126806810 0 0 16 8 2 0 23
IFT122, LOC129937552 1 2 5 2 1 1 10
IL11RA 6 4 1 0 0 0 10
IFT52 6 0 2 0 1 0 9
LOC129933186, WDR35 0 0 6 2 1 0 9
CYP26B1 3 2 3 0 0 0 8
SMO 1 0 4 1 0 0 6
RNU12 5 1 0 0 0 0 5
LOC340512, ZNF462 0 2 2 0 0 0 4
LOC130064579, MEGF8 0 0 2 1 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
IFT140 2 0 0 0 0 0 2
IFT43, TGFB3 0 0 0 2 0 0 2
LOC126860075, POR 1 1 1 0 0 0 2
MATN3, WDR35, WDR35-DT 0 0 0 0 2 0 2
​intergenic 0 0 1 0 0 0 1
ABCA1, ACTL7A, ACTL7B, CT70, CYLC2, ELP1, FKTN, FSD1L, KLF4, LINC01492, LINC01505, LINC01509, LINC03094, LOC105376194, LOC105376196, LOC111365148, LOC111365191, LOC111429628, LOC121331340, LOC121331341, LOC121331342, LOC121811714, LOC124310619, LOC126860707, LOC126860708, LOC126860709, LOC126860710, LOC126860711, LOC126860712, LOC126860713, LOC126860714, LOC126860715, LOC126860716, LOC126860717, LOC126860718, LOC126860719, LOC126860720, LOC126860721, LOC126860722, LOC126860723, LOC128772340, LOC128822931, LOC129390104, LOC129390105, LOC129390106, LOC130002266, LOC130002267, LOC130002268, LOC130002269, LOC130002270, LOC130002271, LOC130002272, LOC130002273, LOC130002274, LOC130002275, LOC130002276, LOC130002277, LOC130002278, LOC130002279, LOC130002280, LOC130002281, LOC130002282, LOC130002283, LOC130002284, LOC130002285, LOC130002286, LOC130002287, LOC130002288, LOC130002289, LOC130002290, LOC130002291, LOC130002292, LOC130002293, LOC130002294, LOC130002295, LOC130002296, LOC130002297, LOC130002298, LOC130002299, LOC130002300, LOC130002301, LOC130002302, LOC130002303, LOC130002304, LOC130002305, LOC132089618, LOC132089619, LOC132089620, LOC132089621, LOC132089622, LOC132090796, LOC340512, MIR8081, NIPSNAP3A, NIPSNAP3B, OR13C2, OR13C3, OR13C4, OR13C5, OR13C8, OR13C9, OR13D1, OR13F1, RAD23B, SLC44A1, SMC2, SMC2-DT, TAL2, TMEM38B, ZNF462 1 0 0 0 0 0 1
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, 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, SPATA31J1, 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
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
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
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
CMPK2, RNF144A, RSAD2, SOX11 0 1 0 0 0 0 1
FERD3L, TWIST1 1 0 0 0 0 0 1
FGFR1, LOC102723716 0 0 0 1 0 0 1
GPT, MFSD3, RECQL4 0 0 1 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
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
LRRC14, RECQL4 1 0 0 0 0 0 1
MATN3, WDR35 0 0 0 1 1 0 1
MDM4 0 0 1 0 0 0 1
MEGF8, MIR8077 0 0 0 1 0 0 1
MYH7 0 0 1 0 0 0 1
SPAG17 0 1 0 0 0 0 1
TCOF1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 146
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 439 111 3772 2816 334 0 7472
Fulgent Genetics, Fulgent Genetics 50 129 869 151 11 0 1209
Illumina Laboratory Services, Illumina 3 1 392 78 139 0 603
OMIM 155 0 0 0 0 0 155
Baylor Genetics 17 7 54 0 0 0 78
Genome-Nilou Lab 0 1 0 2 68 0 71
Revvity Omics, Revvity 6 2 44 0 0 0 52
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 24 3 17 3 0 0 47
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
GeneReviews 0 0 0 0 0 28 28
Neuberg Centre For Genomic Medicine, NCGM 5 2 21 0 0 0 28
3billion 13 6 1 6 0 0 26
Mendelics 5 5 5 7 3 0 25
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 5 12 1 0 0 24
Juno Genomics, Hangzhou Juno Genomics, Inc 11 9 3 0 0 0 23
New York Genome Center 0 0 23 0 0 0 23
Department of Medical Genetics, Oslo University Hospital 12 10 0 0 0 0 22
Natera, Inc. 2 0 5 10 3 0 20
Institute of Human Genetics, University of Leipzig Medical Center 11 1 6 1 0 0 19
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 4 8 0 0 0 15
Klinisk genetik och genomik Research, Gothenburg University 3 10 0 0 0 0 13
MGZ Medical Genetics Center 3 4 4 1 0 0 12
Wilkie Group, Clinical Genetics Lab, WIMM, University of Oxford 5 4 3 0 0 0 12
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 0 7 0 0 0 12
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
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 9 1 0 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 5 0 0 0 0 9
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute 7 0 2 0 0 0 9
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 8 0 0 0 8
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 6 1 0 1 0 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 4 0 0 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 5 2 0 1 0 0 8
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 4 3 0 1 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 5 0 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 3 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 0 0 0 0 0 6
MVZ Medizinische Genetik Mainz 0 2 4 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 3 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 1 0 0 0 0 5
Genomic Medicine Lab, University of California San Francisco 2 1 2 0 0 0 5
Clinical Genomics Laboratory, Stanford Medicine 2 2 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 1 0 0 4
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 2 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 2 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 2 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 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
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 3 0 0 0 0 4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 4 0 0 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 2 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
Genetic Services Laboratory, University of Chicago 2 1 0 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 1 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
SIB Swiss Institute of Bioinformatics 1 1 0 0 1 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
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 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
Centogene AG - the Rare Disease Company 0 0 2 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
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 1 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 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
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 0 0 2 0 0 0 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 1 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 0 0 0 2
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 0 2 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 1 0 0 2
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 2 0 0 0 0 0 2
Solve-RD Consortium 0 2 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
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
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
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
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 1
Human Genetics Unit, University Of Colombo 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
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
Génétique des Maladies du Développement, Hospices Civils de Lyon 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
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
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
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
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
DASA 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
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Human Genetics, University of Luebeck 0 0 1 0 0 0 1
Medical Genetics Laboratory, Etlik City Hospital 1 0 0 0 0 0 1

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