ClinVar Miner

Variants studied for cerebral malformation

Included ClinVar conditions (209):
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 risk factor not provided total
1265 573 5761 1698 1354 3 20 10290

Gene and significance breakdown #

Total genes and gene combinations: 182
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
RELN 14 9 651 216 66 0 1 904
FLNA 68 31 392 239 123 0 3 844
ASPM 153 20 249 42 42 0 0 480
FKTN 33 25 243 77 24 0 0 380
FKRP 41 12 190 86 11 0 0 337
CDON 4 0 157 37 86 0 0 281
QARS1 22 7 201 51 1 0 0 279
TSC1 5 1 157 32 84 0 0 277
POMT1 31 14 136 51 28 0 0 256
POMT2 24 8 154 52 15 0 2 251
LOC101927870, RELN 0 2 162 56 21 0 0 234
GLI2 13 7 95 63 61 0 0 221
DAG1 8 1 155 44 10 0 0 217
POMGNT2 8 2 136 57 11 0 0 214
COL4A2 5 4 76 23 108 0 0 213
COL4A1 24 14 78 62 90 0 1 212
RAB3GAP2 6 1 131 41 22 0 1 193
WDR62 26 13 119 14 29 0 0 193
PTCH1 3 1 102 38 50 0 0 189
CDK5RAP2 19 6 126 3 21 0 2 171
CRPPA 30 8 84 25 13 0 0 159
ARFGEF2 5 2 138 4 9 0 1 158
MCPH1 14 8 106 8 25 0 0 157
CEP152 11 6 107 12 16 0 1 144
ADGRG1 21 6 83 13 22 0 0 140
POMGNT1, TSPAN1 10 72 51 12 7 0 0 140
B3GALNT2 16 11 83 29 4 0 0 135
PAFAH1B1 89 31 10 0 2 0 1 128
GMPPB 15 8 67 30 4 0 0 123
SLC9A6 18 5 58 28 14 0 0 121
RAB18 5 0 80 5 29 0 0 119
ACTB 28 18 24 31 16 0 0 113
KNL1 3 5 93 11 5 0 0 113
LARGE1 5 1 77 9 21 0 0 113
RAB3GAP1 26 1 57 8 19 0 0 111
STIL 5 3 83 6 15 0 0 110
POMK 11 0 59 28 7 0 0 101
CENPJ 7 4 59 3 16 0 0 84
FOXH1 0 0 49 16 19 0 0 81
TUBA1A 28 43 12 0 0 0 2 73
MYH11, NDE1 0 0 40 9 23 0 0 72
B4GAT1 2 1 41 21 5 0 0 69
SHH 37 4 14 8 9 0 0 68
ACTG1 8 9 8 17 23 0 0 63
NDE1 8 0 41 5 10 0 0 63
NODAL 0 0 30 6 12 0 0 48
ZIC2 18 6 12 5 7 0 0 48
CENPJ, RNF17 3 2 36 1 6 0 0 47
TSC2 9 3 32 0 0 0 0 44
LAMC3 5 0 20 2 13 0 0 40
TUBB2B 8 12 17 1 1 0 0 37
FLNA, LOC107988032 4 2 22 4 5 0 0 36
TGIF1 7 1 6 12 16 0 0 34
SIX3 12 2 8 3 9 0 0 32
PSAT1 5 0 13 9 4 0 0 31
RXYLT1 8 4 18 2 2 0 0 31
DCX 19 9 2 1 0 0 0 29
ADGRG1, ADGRG3 0 0 16 1 11 0 0 28
ARX 24 2 2 0 0 0 0 28
LOC100507346, PTCH1 2 0 11 9 6 0 0 27
MACF1 6 1 18 2 0 0 0 26
CIT 9 1 14 0 0 0 0 24
POMGNT1 1 8 11 1 0 0 0 21
RTTN 6 0 14 0 1 0 0 21
TUBB3 7 7 9 0 0 0 0 21
DYNC1H1 0 13 6 0 0 0 0 19
PHGDH 8 3 8 0 0 0 0 17
B3GALNT2, TBCE 1 1 11 3 0 0 0 16
CEP135 5 2 7 2 0 0 0 16
MTOR 9 0 6 0 0 0 1 16
ZNF335 8 2 6 0 0 0 2 16
FGF8 1 9 3 1 1 0 0 15
FOXH1, KIFC2 0 0 11 1 3 0 0 15
LAMB1 4 0 10 1 0 0 0 15
NEDD4L 4 3 9 0 0 0 0 15
TUBB2A 3 9 5 0 1 0 0 15
WDFY3 2 3 9 1 0 0 0 15
KIF14 7 1 6 0 0 0 0 14
ANKLE2 3 1 6 0 2 0 0 12
MAP1B 7 4 4 0 0 3 0 11
PI4KA 3 1 7 0 0 0 0 11
TUBB 5 3 3 0 0 0 1 10
COL4A1, COL4A2 0 0 0 2 7 0 0 9
NCAPD3 4 0 5 0 0 0 0 9
ARX, LOC109610631 6 1 1 0 0 0 0 8
CEP85L 6 1 1 0 0 0 0 8
FIG4 5 1 2 0 0 0 0 8
KIF2A 4 3 2 0 0 0 0 8
TUBA8 0 0 8 0 0 0 0 8
ANGPT2, MCPH1 2 1 5 0 0 0 0 7
CENPE 2 2 4 0 0 0 0 7
KATNB1 6 0 1 0 0 0 0 7
KIF5C 2 0 3 2 0 0 1 7
TBC1D20 5 0 2 0 0 0 0 7
TMTC3 5 1 2 0 0 0 0 7
TUBG1 3 2 1 1 0 0 0 7
​intergenic 3 0 1 0 2 0 0 6
EML1 5 1 0 0 0 0 0 6
LMNB1 6 0 0 0 0 0 0 6
MFSD2A 4 1 2 0 0 0 0 6
DISP1 0 1 4 0 0 0 0 5
ERMARD 1 0 2 1 1 0 0 5
FGFR1 1 4 0 0 0 0 0 5
LMBR1, SHH, ZRS 0 0 0 0 5 0 0 5
APC2 4 0 0 0 0 0 0 4
ARF1 3 1 0 0 0 0 0 4
COLGALT1 4 0 0 0 0 0 0 4
CTNNA2 3 0 1 0 0 0 0 4
EMX2 4 0 0 0 0 0 0 4
LAMA5 0 0 4 0 0 0 0 4
NCAPD2 1 0 3 0 0 0 0 4
PHC1 1 0 3 0 0 0 0 4
STAG2 3 0 0 1 0 0 0 4
DNASE1L1, EMD, FLNA, RPL10, TAFAZZIN 0 0 3 0 0 0 0 3
LOC110008580, ZIC2 2 0 1 0 0 0 0 3
MIR484, NDE1 0 0 2 1 0 0 0 3
NCAPH 1 0 2 0 0 0 0 3
NUP37 2 1 1 0 0 0 0 3
SASS6 3 0 0 0 0 0 0 3
TBC1D7, TBC1D7-LOC100130357 2 0 1 0 0 0 0 3
ATP1A2 2 0 0 0 0 0 0 2
CELSR1 0 0 2 0 0 0 0 2
CNOT1 1 0 2 0 0 0 0 2
DLL1 0 0 2 0 0 0 0 2
EMD, FLNA 0 0 2 0 0 0 0 2
GAS1 0 0 2 0 0 0 0 2
LAMA2 0 0 2 0 0 0 0 2
LINGO4 0 0 2 0 0 0 0 2
LMNB2 2 0 0 0 0 0 0 2
PCDH12 0 0 2 0 0 0 0 2
PIK3CA 1 0 1 0 0 0 0 2
PLOD1 2 0 0 0 0 0 0 2
PTEN 2 0 0 0 0 0 0 2
TRAPPC14 1 0 1 0 0 0 0 2
WDR81 1 1 0 0 0 0 0 2
ABAT, ABCA3, ABCC1, ABCC6, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ADCY9, AHSP, ALDOA, ALG1, AMDHD2, ANKS3, ANKS4B, APOBR, AQP8, ARHGAP17, ARL6IP1, ARMC5, ASPHD1, ATF7IP2, ATP2A1, ATP6V0C, ATXN2L, BAIAP3, BCAR4, BCKDK, BCL7C, BFAR, BICDL2, BMERB1, BOLA2, BOLA2B, BRICD5, C16orf54, C16orf72, C16orf82, C16orf89, C16orf90, C16orf91, C16orf92, C16orf96, CACNG3, CARHSP1, CASKIN1, CCDC154, CCDC189, CCNF, CCP110, CD19, CD2BP2, CDIP1, CDIPT, CDR2, CEMP1, CEP20, CHP2, CIITA, CLCN7, CLDN6, CLDN9, CLEC16A, CLEC19A, CLN3, CLUAP1, COG7, COQ7, CORO1A, CORO7, CORO7-PAM16, COX6A2, CPPED1, CRAMP1, CREBBP, CRYM, CTF1, DCTN5, DCTPP1, DCUN1D3, DEXI, DNAAF8, DNAH3, DNAJA3, DNASE1, DNASE1L2, DOC2A, E4F1, EARS2, ECI1, EEF2K, EEF2KMT, EIF3C, EIF3CL, ELOB, EME2, EMP2, ERCC4, ERI2, ERN2, FAHD1, FBRS, FBXL19, FLYWCH1, FLYWCH2, FUS, GDE1, GDPD3, GFER, GGA2, GLIS2, GLYR1, GNPTG, GP2, GPR139, GPRC5B, GRIN2A, GSG1L, GSPT1, GTF3C1, HAGH, HCFC1R1, HIRIP3, HMOX2, HS3ST2, HS3ST4, HS3ST6, HSD3B7, IFT140, IGFALS, IGSF6, IL21R, IL27, IL32, IL4R, INO80E, IQCK, ITGAD, ITGAL, ITGAM, ITGAX, ITPRIPL2, JPT2, KAT8, KATNIP, KCTD13, KCTD5, KDM8, KIF22, KNOP1, KREMEN2, LAT, LCMT1, LDAF1, LITAF, LYRM1, MAPK3, MAPK8IP3, MARF1, MAZ, MEFV, MEIOB, METTL22, METTL9, MGRN1, MIR1225, MIR193B, MIR365A, MLST8, MMP25, MOSMO, MPV17L, MRPS34, MRTFB, MSRB1, MTRNR2L4, MVP, MYH11, MYLPF, NAA60, NAGPA, NDE1, NDUFAB1, NDUFB10, NFATC2IP, NLRC3, NME3, NMRAL1, NOMO1, NOMO2, NOMO3, NOXO1, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NPW, NSMCE1, NTAN1, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, NUPR1, OR1F1, OR2C1, ORAI3, OTOA, PAGR1, PALB2, PAM16, PAQR4, PARN, PDILT, PDPK1, PDXDC1, PDZD9, PGP, PHKG2, PKD1, PKMYT1, PLA2G10, PLK1, PMM2, POLR3E, PPL, PPP4C, PRKCB, PRM1, PRM2, PRM3, PRR14, PRRT2, PRSS21, PRSS22, PRSS27, PRSS33, PRSS36, PRSS41, PRSS53, PRSS8, PTX4, PYCARD, PYDC1, QPRT, RAB26, RABEP2, RBBP6, RBFOX1, RMI2, RNF151, RNF40, RNPS1, ROGDI, RPL3L, RPS15A, RPS2, RRN3, RSL1D1, RUSF1, SBK1, SCNN1B, SCNN1G, SDR42E2, SEC14L5, SEPHS2, SEPTIN1, SEPTIN12, SETD1A, SEZ6L2, SGF29, SH2B1, SHISA9, SLC5A11, SLC5A2, SLC9A3R2, SLX1A, SLX1B, SLX4, SMG1, SMIM22, SNHG9, SNN, SNX29, SOCS1, SPN, SPNS1, SPSB3, SRCAP, SRL, SRRM2, STX1B, STX4, SULT1A1, SULT1A2, SULT1A3, SULT1A4, SYNGR3, SYT17, TAOK2, TBC1D10B, TBC1D24, TBL3, TBX6, TEDC2, TEKT5, TELO2, TFAP4, TGFB1I1, THOC6, THUMPD1, TIGD7, TLCD3B, TMC5, TMC7, TMEM114, TMEM186, TMEM204, TMEM219, TNFRSF12A, TNFRSF17, TNP2, TNRC6A, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D, TPSAB1, TPSB2, TPSD1, TRAF7, TRAP1, TRIM72, TSC2, TSR3, TUFM, TVP23A, TXNDC11, UBALD1, UBE2I, UBFD1, UBN1, UMOD, UNKL, UQCRC2, USP31, USP7, VASN, VKORC1, VPS35L, VWA3A, XPO6, XYLT1, YPEL3, ZC3H7A, ZG16, ZG16B, ZKSCAN2, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF267, ZNF48, ZNF500, ZNF597, ZNF598, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF720, ZNF747, ZNF75A, ZNF764, ZNF768, ZNF771, ZNF785, ZNF843, ZP2, ZSCAN10, ZSCAN32 1 0 0 0 0 0 0 1
ABCC4, CLDN10, CLYBL, DCT, DNAJC3, DOCK9, DZIP1, FARP1, FGF14, GGACT, GPC5, GPC6, GPR18, GPR180, GPR183, HS6ST3, IPO5, ITGBL1, MBNL2, METTL21C, MIR17, MIR17HG, MIR18A, MIR19A, MIR19B1, MIR20A, MIR92A1, NALCN, OXGR1, PCCA, RAP2A, RNF113B, SLC15A1, SOX21, STK24, TGDS, TM9SF2, TMTC4, TPP2, UBAC2, UGGT2, ZIC2, ZIC5 1 0 0 0 0 0 0 1
ABL1, AIF1L, EXOSC2, FAM78A, FIBCD1, LAMC3, NUP214, PLPP7, POMT1, PRDM12, PRRC2B, QRFP 0 0 1 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2 1 0 0 0 0 0 0 1
AIPL1 0 0 0 0 1 0 0 1
AKT3 0 1 0 0 0 0 0 1
AMT, C3orf62, C3orf84, CCDC71, DAG1, GPX1, IHO1, KLHDC8B, LAMB2, NICN1, RHOA, TCTA, USP4 1 0 0 0 0 0 0 1
ANKMY2, BZW2, CRPPA, LRRC72, SOSTDC1 1 0 0 0 0 0 0 1
ASPA, CLUH, LOC100288728, METTL16, OR1A1, OR1A2, OR1D2, OR1D5, OR1E1, OR1E2, OR1G1, OR3A1, OR3A2, OR3A3, PAFAH1B1, RAP1GAP2, SPATA22, TRPV3 1 0 0 0 0 0 0 1
BAG6 0 0 1 0 0 0 0 1
BOC 0 0 1 0 0 0 0 1
BORCS5 0 1 0 0 0 0 0 1
CALM3, DACT3, FKRP, GNG8, PRKD2, PTGIR, STRN4 0 0 1 0 0 0 0 1
CDK5 1 0 0 0 0 0 0 1
CDK6 1 0 0 0 0 0 0 1
CLUH, METTL16, PAFAH1B1, RAP1GAP2 1 0 0 0 0 0 0 1
CLYBL, TM9SF2, UBAC2, ZIC2, ZIC5 1 0 0 0 0 0 0 1
COLGALT1, NIBAN3 0 1 0 0 0 0 0 1
COPB2 1 0 0 0 0 0 0 1
DHX37 0 1 0 0 0 0 0 1
DPH1, HIC1, INPP5K, METTL16, MIR132, MIR212, MIR22, MNT, MYO1C, OVCA2, PAFAH1B1, PITPNA, PRPF8, RILP, RPA1, RTN4RL1, SCARF1, SERPINF1, SERPINF2, SGSM2, SLC43A2, SMG6, SMYD4, SRR, TLCD2, TSR1, WDR81 1 0 0 0 0 0 0 1
EHMT1 1 0 0 0 0 0 0 1
ENTPD1 0 0 1 0 0 0 0 1
EXOSC3 1 0 0 0 0 0 0 1
FHL1, SLC9A6 0 0 1 0 0 0 0 1
FKRP, STRN4 0 0 1 0 0 0 0 1
FKTN, FSD1L 1 0 0 0 0 0 0 1
FNTA, HOOK3, MIR4469, POMK, RNF170, THAP1 0 0 1 0 0 0 0 1
FOXG1 0 1 0 0 0 0 0 1
GRIN1 0 0 1 0 0 0 0 1
LOC102724058, SCN1A 1 0 0 0 0 0 0 1
MATN4 0 1 0 0 0 0 0 1
MCPH1, MCPH1-DT 1 0 0 0 0 0 0 1
NBN 1 0 0 0 0 0 0 1
NKX2-5 0 0 0 0 1 0 0 1
NR2F1 0 0 1 0 0 0 0 1
NSDHL 0 0 1 0 0 0 0 1
OFD1 0 1 0 0 0 0 0 1
PEX1 0 0 1 0 0 0 0 1
RHEB 0 1 0 0 0 0 0 1
RPS6 0 0 1 0 0 0 0 1
SCN3A 0 1 0 0 0 0 0 1
SETD5 0 1 0 0 0 0 0 1
SLC26A4 0 0 0 0 1 0 0 1
SUFU 0 0 1 0 0 0 0 1
TUBA3E 0 1 0 0 0 0 0 1
ZRSR2 0 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 risk factor not provided total
Invitae 247 85 2756 1205 467 0 0 4760
Illumina Clinical Services Laboratory,Illumina 2 1 2206 450 861 0 0 3465
Genetic Services Laboratory, University of Chicago 226 65 252 0 0 0 0 543
OMIM 492 0 5 0 0 0 0 497
Baylor Genetics 59 23 248 1 0 0 0 331
GeneReviews 176 0 0 0 71 0 0 247
Fulgent Genetics,Fulgent Genetics 22 8 183 1 0 0 0 214
Counsyl 5 70 32 3 0 0 0 110
Natera, Inc. 8 1 51 14 13 0 0 87
Centre for Mendelian Genomics,University Medical Centre Ljubljana 13 10 56 3 4 0 0 86
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 9 65 0 0 76
Service de Génétique Moléculaire,Hôpital Robert Debré 22 20 4 14 0 0 0 60
University of Washington Center for Mendelian Genomics, University of Washington 0 46 12 0 0 0 0 58
Institute of Human Genetics, University of Leipzig Medical Center 7 14 25 4 0 0 0 50
Mendelics 5 8 7 7 15 0 0 42
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 6 26 2 0 0 0 39
Athena Diagnostics Inc 0 0 0 0 38 0 0 38
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 36 0 0 0 0 0 37
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 9 15 11 0 0 0 0 35
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 3 30 0 0 34
Claritas Genomics 8 15 6 0 0 0 0 29
Muenke lab,National Institutes of Health 12 7 9 0 1 0 0 29
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 6 3 19 0 0 0 0 28
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 8 14 1 0 0 0 25
Broad Institute Rare Disease Group, Broad Institute 5 4 9 0 6 0 0 24
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 12 2 7 0 0 0 0 21
Institute of Human Genetics, Klinikum rechts der Isar 12 8 0 0 0 0 0 20
Laboratory of Molecular Genetics,CHU RENNES 0 14 6 0 0 0 0 20
GenomeConnect, ClinGen 0 0 0 0 0 0 19 19
Department of Genetics,Robert DEBRE University Hospital 15 0 0 0 0 0 0 15
New York Genome Center 1 0 13 0 0 0 0 14
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 2 1 8 0 0 12
Integrated Genetics/Laboratory Corporation of America 8 4 0 0 0 0 0 12
Mayo Clinic Laboratories, Mayo Clinic 1 2 9 0 0 0 0 12
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 4 3 0 0 0 0 12
Genomic Medicine Lab, University of California San Francisco 4 3 5 0 0 0 0 12
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 8 1 0 0 0 0 10
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 6 0 0 0 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 3 2 2 0 0 0 9
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 1 3 0 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 6 0 0 0 0 0 9
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 7 1 0 0 0 0 8
Genetics Institute, Tel Aviv Sourasky Medical Center 3 5 0 0 0 0 0 8
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 5 2 0 0 0 0 7
Undiagnosed Diseases Network,NIH 2 3 2 0 0 0 0 7
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 1 5 0 0 0 0 7
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 7 0 0 0 0 0 0 7
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 6 0 0 0 0 0 6
UCLA Clinical Genomics Center, UCLA 1 5 0 0 0 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 2 0 0 0 0 0 6
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 3 3 0 0 0 0 0 6
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 2 2 0 0 0 0 6
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 2 4 0 0 0 0 6
Clinical Genetics laboratory, University of Goettingen 1 2 2 0 0 0 0 5
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 4 1 0 0 0 0 0 5
Division of Human Genetics,Children's Hospital of Philadelphia 0 2 3 0 0 0 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 4 1 0 0 0 0 0 5
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 2 1 0 0 0 5
Human Molecular Genetics and Metabolic Disorders,Pakistan Institute for Engineering and Applied Science (PIEAS) 5 0 0 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 1 1 3 0 0 0 0 5
Nilou-Genome Lab 0 0 0 1 4 0 0 5
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 4 0 0 0 0 0 4
Dobyns Lab,Seattle Children's Research Institute 2 1 1 0 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 2 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 1 1 0 0 2 0 0 4
SBielas Lab, Department of Human Genetics,University of Michigan 4 0 0 0 0 0 0 4
Clinical Genetics Group,University of Otago 4 0 0 0 0 0 0 4
Epi4K Consortium 0 4 0 0 0 0 0 4
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 3 0 0 0 1 0 0 4
Institute of Human Genetics,Cologne University 0 0 2 1 0 0 0 3
Centogene AG - the Rare Disease Company 1 2 0 0 0 0 0 3
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 1 2 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 1 2 0 0 0 0 0 3
deCODE genetics, Amgen 0 0 0 0 0 3 0 3
Center for Reproductive Medicine, Peking University Third Hospital 0 1 2 0 0 0 0 3
Engle Laboratory,Boston Children's Hospital 1 1 0 0 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 2 0 0 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 1 0 0 0 0 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 0 2
Department of Clinical Genetics,Oxford University Hospitals NHS Trust 2 0 0 0 0 0 0 2
Molecular Genetics Pathology Laboratory, University Of Arkansas for Medical Sciences 1 0 1 0 0 0 0 2
Genetic Diagnostic Laboratory,University of Szeged 1 1 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 1 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 0 2
Heinzen Lab,Columbia University 2 0 0 0 0 0 0 2
Ege University Pediatric Genetics,Ege University 2 0 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 1 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 1 0 0 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 2 0 0 0 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 2 0 0 0 0 0 0 2
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 1 0 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 0 2 0 0 0 0 0 2
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 1 1 0 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 0 2 0 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 1 1 0 0 0 0 2
DeNA Laboratory, DeNA Laboratory 0 2 0 0 0 0 0 2
Precision Medical Center, Maternal and Child Health Hospital of Hubei Province 0 2 0 0 0 0 0 2
Medical Genetics Laboratory,CHRU Nancy 2 0 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Prenatal Medicine Munich,Prenatal Medicine Munich 0 1 0 0 0 0 0 1
Center for Human Genetics,University of Leuven 1 0 0 0 0 0 0 1
Medical Research Institute,Tokyo Medical and Dental University 1 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 1
Bioinformatics dept.,Datar Cancer Genetics Limited, India 0 0 1 0 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 1 0 0 0 0 0 0 1
Research Group Niklas Dahl,Uppsala University 1 0 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 0 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 1 0 0 0 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 1 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 1 0 0 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 1 0 0 0 0 1
Genetics Division,Universidade Federal de Sao Paulo 0 1 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 1
Variantyx, Inc. 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 0 1
Department of Pediatrics,Driscoll Children's Hospital 1 0 0 0 0 0 0 1
Pediatric Neurology,Northwest Women’s and Children’s Hospital 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory,Federal University of Health Sciences of Porto Alegre 0 1 0 0 0 0 0 1
Molecular Genetics Center,Sichuan Provincial People's Hospital 0 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 0 1
Center of Human Genetics, Erasme Hospital 1 0 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 0 1
Human Genetics Department,Tarbiat Modares University 0 0 1 0 0 0 0 1
SavaGenome Genetic Health Clinic 1 0 0 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 0 1 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 0 1
Department of Molecular Bıology and Genetics,Istanbul Technical University 0 1 0 0 0 0 0 1
Medical Genetics Laboratory,Tarbiat Modares University 1 0 0 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1 0 0 0 0 0 0 1
Sezerman Lab, Dept of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University 0 1 0 0 0 0 0 1

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