ClinVar Miner

Variants studied for hereditary disorder of connective tissue

Included ClinVar conditions (296):
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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 association risk factor not provided total
4673 2875 20303 15002 3020 35 5 777 43550

Gene and significance breakdown #

Total genes and gene combinations: 334
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
FBN1 2058 1211 2149 1700 212 0 0 13 6516
FBN2 44 66 1078 1219 333 0 0 6 2620
PLCG2 6 4 724 673 97 0 0 1 1467
NOTCH2 40 20 811 530 84 0 0 0 1438
IFIH1 31 16 803 560 65 0 0 4 1435
ADAR 53 20 738 463 52 0 0 3 1297
NLRP12 9 8 755 370 85 0 0 1 1166
EXT1 413 47 349 212 31 0 0 0 1023
PLOD1 65 52 348 531 31 0 0 3 983
NLRP3 35 18 497 339 68 0 0 98 945
NOD2 16 2 532 356 82 3 0 81 945
MEFV 17 14 521 499 76 0 0 117 908
SKI 19 11 356 424 36 0 0 0 815
SAMHD1 110 50 280 402 18 0 0 19 814
LPIN2 24 18 389 354 57 0 0 11 799
COPA 8 2 309 427 56 0 0 1 790
SH3BP2 9 3 380 268 135 0 0 0 763
EXT2 171 27 324 221 56 0 0 1 758
ABCC6 106 164 404 73 65 0 0 3 740
NLRC4 7 2 440 241 27 0 0 0 714
PSTPIP1 3 0 314 274 69 0 0 4 628
MVK 73 44 217 278 18 0 0 92 624
ATRIP, ATRIP-TREX1, TREX1 51 35 325 142 16 0 0 14 539
TGFB2 60 24 249 170 38 0 0 1 514
ADA2 65 39 243 176 15 0 0 7 507
SLC2A10 36 22 237 192 35 0 0 20 488
COL2A1 168 123 134 35 37 0 0 10 485
TGFBR2 27 42 281 143 20 0 0 2 481
RBCK1 29 9 186 230 21 0 0 0 472
TGFB3 45 25 221 169 14 0 0 1 467
TNFRSF1A 19 14 199 195 19 0 0 86 465
TMPO 0 0 292 129 21 0 0 0 442
ZNF469 9 24 264 68 113 0 0 6 426
RNASEH2A 20 22 165 219 13 0 0 8 423
RNASEH2B 30 26 160 210 13 0 0 0 423
PDGFRB 22 3 109 211 83 0 0 1 420
IL10RA 16 6 205 179 39 0 0 1 418
SMAD3 19 35 228 134 15 0 0 1 412
TGFBR1 13 28 254 109 14 0 0 0 401
CDH23 50 188 112 12 11 0 0 0 367
FN1 7 10 247 58 18 0 0 3 335
ACP5 39 3 141 109 12 0 0 0 297
CASR 27 20 176 33 19 0 0 4 277
STING1 8 3 158 91 14 0 0 0 270
ADAM17, IAH1 8 3 115 112 22 0 0 0 256
CDC73 17 7 173 38 25 0 0 0 236
RNASEH2C 3 7 103 130 6 0 0 1 236
LOC126862264, MEFV 11 9 114 137 16 0 0 59 235
ADAM17 10 2 92 116 9 0 0 1 228
IFNAR2-IL10RB, IL10RB 9 6 109 90 14 0 0 0 215
PSMB8 19 3 105 81 13 0 0 0 213
APC 30 7 153 11 3 0 0 1 205
IL1RN 10 2 89 75 24 0 0 0 193
IL36RN 14 7 102 63 23 0 0 2 187
ANTXR2 17 17 104 16 29 0 0 0 180
ANKH, OTULIN 0 0 87 1 62 0 0 0 150
CHST3 0 0 92 31 20 0 0 0 143
FGFR1 5 10 91 35 3 0 0 2 142
AIP 9 10 64 11 16 0 0 50 140
MTAP 0 0 65 6 56 0 0 0 124
COL9A2 5 3 46 23 34 0 0 1 109
FBN1, LOC113939944 34 19 41 28 3 0 0 0 109
FBN1, LOC126862124 36 17 34 31 4 0 0 0 105
SKIC2 12 15 52 11 18 0 0 0 104
ADAR, LOC126805874 9 4 47 39 4 0 0 0 94
FBN2, LOC126807501 0 1 34 43 14 0 0 0 87
PRDM5 8 20 45 6 5 0 0 1 82
GCM2 2 8 67 6 0 0 0 0 81
SKIC3 21 30 21 5 4 0 0 0 79
LOC130006061, RNASEH2C 0 0 34 42 1 0 0 0 77
GNAS 14 2 25 33 2 0 0 0 74
DNASE1L3 3 5 53 12 0 0 0 0 73
CYLD, NOD2 0 0 38 18 15 1 0 3 71
LOC117038795, RNASEH2A 5 3 33 29 2 0 0 3 69
NOTCH3 11 7 25 20 2 0 0 3 66
EXT2, LOC126861201 3 2 33 24 1 0 0 0 61
EGFR 3 0 47 3 6 0 0 0 59
SAMHD1, TLDC2 1 0 29 21 11 0 0 0 58
TNFAIP3 11 6 29 7 5 0 0 0 58
LOC123522803, STING1 0 0 28 21 5 0 0 0 54
NSDHL 10 5 25 11 2 0 0 4 54
COL9A3 6 5 21 7 7 0 0 0 46
KAT5, RNASEH2C 0 0 29 5 10 0 0 0 43
LOC130009810, RNASEH2B 3 3 18 20 0 0 0 0 43
ANKH 5 1 11 2 21 0 0 0 40
PRG4 23 9 4 0 5 0 0 0 38
C10orf105, CDH23 6 19 10 0 2 0 0 0 37
COL9A1 3 1 16 5 12 0 0 0 36
FBN1, LOC130057019 8 4 17 11 4 0 0 0 36
TGFB2, TGFB2-OT1 0 0 16 4 12 0 0 0 32
AIP, LOC130006206 0 0 20 1 4 0 0 9 31
LOC130008520, TMPO 0 0 13 16 1 0 0 0 30
ATIC, FN1 0 0 23 4 1 0 0 0 28
MED12 0 0 0 0 0 28 0 0 28
PLOD3 4 5 9 3 8 0 0 0 28
XYLT1 8 1 6 0 13 0 1 0 28
ADAR, LOC129931512 0 0 9 12 2 0 0 0 23
IFNAR2-IL10RB, IL10RB, LOC130066558 0 2 10 11 0 0 0 0 23
LOC130057352, SMAD3 1 3 10 7 4 0 0 0 23
XYLT2 2 5 5 0 8 0 1 0 20
RIGI 2 1 6 1 7 0 0 1 18
LOC126859653, SKIC2 2 2 10 1 3 0 0 0 17
OTULIN 8 0 5 2 0 0 0 0 15
LOC126859807, TNFAIP3 4 2 4 2 2 0 0 0 14
SMAD2 7 4 2 0 1 0 0 0 14
FN1, LOC126806497 0 0 9 3 1 0 0 0 13
LOC130007232, TNFRSF1A 0 0 4 9 1 0 0 0 13
ALK 0 0 11 1 0 0 0 0 12
FN1, LOC126806498 0 0 7 5 0 0 0 0 12
POLA1 1 0 7 4 0 0 0 0 12
ANKH, LOC100130744, OTULIN 1 0 0 3 9 0 0 0 11
FN1, LOC122861289 0 0 7 3 1 0 0 0 11
FN1, LOC126806496 0 0 6 5 0 0 0 0 11
LOC130009809, RNASEH2B 0 0 8 2 1 0 0 0 11
ABCC6, LOC125146421 1 1 9 0 0 0 0 0 10
ABL1 2 1 2 5 0 1 0 0 10
CDH23, LOC111982869 3 4 2 0 0 0 0 0 9
EXT2, LOC130005598 0 0 3 0 6 0 0 0 9
INSL6, JAK2 1 2 4 1 1 0 0 1 9
TRAPPC2 0 0 5 1 3 0 0 0 9
WNT1 0 5 0 1 0 0 3 0 9
C12orf57, RNU7-1 5 2 1 0 0 0 0 0 8
DOCK11 7 0 1 0 0 0 0 0 8
FBN1, LOC130057020 0 0 7 1 0 0 0 0 8
MEN1 2 2 0 1 3 0 0 0 8
MMAB, MVK 0 0 1 2 6 0 0 0 8
PSMB4 4 0 2 0 3 0 0 0 8
SOCS1 3 3 3 0 0 0 0 0 8
BCR 0 0 4 1 0 0 0 2 7
ELF4 3 0 4 0 0 0 0 0 7
EXT1, LOC130001002 0 0 4 1 2 0 0 0 7
FN1, FN1-DT 0 0 6 0 1 0 0 0 7
HIF1A 0 7 0 0 0 0 0 0 7
IL10RA, LOC130006833 2 1 3 1 0 0 0 0 7
KRAS 2 0 0 0 0 0 0 5 7
LOC102723692, XYLT1 4 0 2 1 2 0 0 0 7
LOC112577486, PLOD1 0 0 2 3 3 0 0 1 7
LOC130065805, SAMHD1 3 0 0 3 1 0 0 0 7
USP18 4 3 2 0 0 0 0 0 7
IKBKG 4 0 2 0 0 0 0 0 6
NELFE, SKIC2 0 0 5 1 0 0 0 0 6
PRG4, TPR 4 2 0 0 0 0 0 0 6
PSMB10 4 0 2 0 0 0 0 0 6
USP8 5 0 1 0 0 0 0 0 6
COL5A2 0 0 5 0 0 0 0 0 5
FN1, LOC126806499 0 0 4 1 0 0 0 0 5
LOC126863253, UBA1 5 3 0 0 0 0 0 0 5
LOC129936399, TGFBR2 0 0 4 0 1 0 0 0 5
LOC130002223, TGFBR1 0 0 4 1 0 0 0 0 5
LOC130057651, PSTPIP1 0 0 2 0 3 0 0 0 5
LYN 4 0 1 0 0 0 0 0 5
POMP 3 0 1 1 0 0 0 0 5
RIPK1 5 0 0 0 0 0 0 0 5
ADAR, LOC129931513 0 0 3 0 1 0 0 0 4
COL9A3, LOC126863084 0 0 3 1 0 0 0 0 4
IDH1 2 2 1 0 0 0 0 0 4
IL10RB 3 0 1 0 0 0 0 0 4
LOC130058479, SOCS1 2 0 2 0 0 0 0 0 4
LOC130059718, ZNF469 0 1 2 0 1 0 0 0 4
PSMB9 2 1 1 0 1 0 0 0 4
PSMG2 2 0 2 0 0 0 0 0 4
SRC 1 1 3 0 0 0 0 0 4
UBA1 0 0 3 1 0 0 0 0 4
COL3A1 0 1 2 0 0 0 0 0 3
KDM4C 0 0 3 0 0 0 0 0 3
LOC129992073, SH3BP2 0 0 0 1 2 0 0 0 3
LOC130007233, TNFRSF1A 0 0 3 0 0 0 0 0 3
LOC130059719, ZNF469 1 0 1 0 1 0 0 0 3
MFN2 2 0 1 0 0 0 0 0 3
MYH11 0 0 3 0 0 0 0 0 3
TLR7 3 0 0 0 0 0 0 0 3
VHL 0 3 0 0 0 0 0 0 3
​intergenic 1 0 1 0 0 0 0 0 2
ADD1, ATP5ME, CPLX1, CRIPAK, CTBP1, DGKQ, DOK7, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, GRK4, HAUS3, HGFAC, HTT, IDUA, LETM1, MAEA, MFSD10, MSANTD1, MXD4, MYL5, NAT8L, NELFA, NICOL1, NKX1-1, NOP14, NSD2, PCGF3, PDE6B, PIGG, POLN, RGS12, RNF212, RNF4, SH3BP2, SLBP, SLC26A1, SLC49A3, SPON2, TACC3, TMEM129, TMEM175, TNIP2, UVSSA, ZFYVE28, ZNF721 0 0 2 0 0 0 0 0 2
ALDH18A1 0 0 2 0 0 0 0 0 2
ANTXR2, LOC129992737 0 0 1 0 1 0 0 0 2
ANTXR2, LOC129992738 0 0 1 0 1 0 0 0 2
ARCN1, ATP5MG, BCL9L, CD3D, CD3E, CD3G, CENATAC, CXCR5, DDX6, DPAGT1, FOXR1, H2AX, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MPZL2, MPZL3, PHLDB1, RPS25, SCN2B, SCN4B, SLC37A4, TMEM25, TMPRSS4, TRAPPC4, TREH, TTC36, UBE4A, UPK2, VPS11 1 0 1 0 0 0 0 0 2
B3GALT2, CDC73 0 0 1 1 0 0 0 0 2
CDKN2A 0 0 2 0 0 0 0 0 2
CLASP1, RNU4ATAC 1 1 0 0 0 0 0 0 2
COL5A1, LOC101448202 0 0 2 0 0 0 0 0 2
CTNNB1, LOC126806658 1 2 0 0 0 0 0 0 2
CTXN2, DUT, FBN1, MYEF2, SLC12A1, SLC24A5 2 0 0 0 0 0 0 0 2
EGFR, LOC126860048 1 0 1 0 0 0 0 0 2
EMILIN2, LPIN2, SMCHD1 1 0 1 0 0 0 0 0 2
ERVFRD-3, MTAP 2 0 0 0 0 0 0 0 2
FBN1, LOC113939944, LOC125078076, LOC126862124, LOC126862125, LOC130057018, LOC130057019 2 0 0 0 0 0 0 0 2
FBN2, LOC126807502 0 0 2 0 0 0 0 0 2
GNAI2 1 0 1 0 0 0 0 0 2
GPR101 2 0 1 0 0 0 0 2 2
IDH2 0 0 2 0 0 0 0 0 2
IL21, LOC126807147 1 0 1 0 0 0 0 0 2
LOC107303340, VHL 0 2 0 0 0 0 0 0 2
LOC129992072, SH3BP2 0 0 0 1 1 0 0 0 2
LOC130006062, RNASEH2C 0 0 1 1 0 0 0 0 2
LOC130007233, SCNN1A, TNFRSF1A 0 0 0 2 0 0 0 0 2
LOC130056139, TGFB3 0 2 0 0 0 0 0 0 2
LOC130058478, SOCS1 0 1 1 0 0 0 0 0 2
LOC130058566, XYLT1 1 1 0 0 0 0 0 0 2
LOC130062090, LOC130062091, LOC130062092, LPIN2 1 0 1 0 0 0 0 0 2
LOC130064510, TGFB1 2 0 0 0 0 0 0 0 2
LTBP2 1 0 1 0 0 0 0 0 2
MLKL 0 0 0 0 0 2 0 0 2
MYLK 0 0 2 0 0 0 0 0 2
NLRC4, SLC30A6, SPAST 0 0 2 0 0 0 0 0 2
NLRP3, OR2B11 0 0 2 0 0 0 0 0 2
NOTCH1 0 0 1 1 0 0 0 0 2
PSMA3 2 0 0 0 0 0 0 0 2
PSMB8, TAP2 0 0 2 0 0 0 0 0 2
RBCK1, TBC1D20 1 0 1 0 0 0 0 0 2
TET2 1 0 1 0 0 0 0 0 2
AARD, CCN3, COLEC10, EIF3H, ENPP2, EXT1, LINC00536, MAL2, MED30, RAD21, SAMD12, SLC30A8, TAF2, TNFRSF11B, TRPS1, UTP23 0 0 1 0 0 0 0 0 1
AARD, CCN3, COLEC10, EIF3H, ENPP2, EXT1, MAL2, MED30, RAD21, SAMD12, SLC30A8, TAF2, TNFRSF11B, UTP23 0 0 1 0 0 0 0 0 1
ABCA3 0 1 0 0 0 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1 1 0 0 0 0 0 0 0 1
ABCC1, ABCC6, CEP20, LOC112340382, LOC113939949, LOC121587532, LOC125146420, LOC125146421, LOC126862300, MYH11, NDE1 1 0 0 0 0 0 0 0 1
ABCC1, ABCC6, CEP20, LOC112340382, LOC121587532, LOC125146420, LOC125146421, LOC126862300, MYH11 1 0 0 0 0 0 0 0 1
ABCC2 0 1 0 0 0 0 0 0 1
ABCD1 1 0 0 0 0 0 0 0 1
ABCG4, APOA1, APOA4, APOC3, ARCN1, ARHGEF12, ATP5MG, BACE1, BCL9L, C1QTNF5, C2CD2L, CBL, CD3D, CD3E, CD3G, CENATAC, CEP164, CXCR5, DDX6, DPAGT1, DRC12, DSCAML1, FOXR1, FXYD2, FXYD6, FXYD6-FXYD2, GRIK4, H2AX, HINFP, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MCAM, MFRP, MPZL2, MPZL3, NECTIN1, NHERF4, NLRX1, OAF, PAFAH1B2, PCSK7, PHLDB1, POU2F3, RNF214, RNF26, RPS25, SC5D, SCN2B, SCN4B, SIDT2, SIK3, SLC37A4, SORL1, TAGLN, TBCEL, TECTA, THY1, TLCD5, TMEM25, TMPRSS13, TMPRSS4, TRAPPC4, TREH, TRIM29, TTC36, UBE4A, UPK2, USP2, VPS11 0 0 1 0 0 0 0 0 1
ABHD16A, AGER, AGPAT1, AIF1, ANKS1A, APOM, ARMC12, ATF6B, ATP6V1G2, B3GALT4, BAG6, BAK1, BLTP3A, BNIP5, BRD2, BRPF3, BTNL2, C2, C4A, C4B, C6orf15, C6orf47, C6orf89, CCHCR1, CDKN1A, CDSN, CFB, CLIC1, CLPS, CLPSL1, CLPSL2, COL11A2, CPNE5, CSNK2B, CUTA, CYP21A2, DAXX, DDAH2, DDR1, DDX39B, DEF6, DXO, EGFL8, EHMT2, ETV7, FANCE, FKBP5, FKBPL, FLOT1, GPANK1, GPSM3, GRM4, GTF2H4, HCG22, HCG26, HCP5, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HMGA1, HSD17B8, HSPA1A, HSPA1B, HSPA1L, IER3, ILRUN, IP6K3, ITPR3, KCTD20, KIFC1, LEMD2, LHFPL5, LSM2, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6F, MAPK13, MAPK14, MCCD1, MICA, MICB, MIR219A1, MLN, MPIG6B, MSH5, MTCH1, MUC21, MUC22, MUCL3, NCR3, NELFE, NEU1, NFKBIL1, NOTCH4, NUDT3, PACSIN1, PBX2, PFDN6, PHF1, PI16, PNPLA1, POU5F1, PPARD, PPIL1, PPT2, PRRC2A, PRRT1, PSMB8, PSMB9, PSORS1C1, PSORS1C2, PXT1, RAB44, RGL2, RING1, RNF5, RPL10A, RPS10, RPS18, RXRB, SAPCD1, SCUBE3, SFTA2, SKIC2, SLC26A8, SLC39A7, SLC44A4, SMIM29, SNHG32, SNRPC, SPDEF, SRPK1, SRSF3, STK38, SYNGAP1, TAF11, TAP1, TAP2, TAPBP, TCF19, TCP11, TEAD3, TNF, TNXB, TSBP1, TULP1, UQCC2, VARS1, VARS2, VPS52, VWA7, WDR46, WHR1, ZBTB12, ZBTB22, ZBTB9, ZNF76 0 0 1 0 0 0 0 0 1
ABRACL, AHI1, AHI1-DT, ALDH8A1, ARFGEF3, BCLAF1, CCDC28A, CITED2, ECT2L, FILNC1, GJE1, HBS1L, HEBP2, HECA, IFNGR1, IL20RA, IL22RA2, LINC01625, LINC02524, LINC02539, LINC02865, LINC02941, LINC03004, LOC101928373, LOC102723690, LOC103352541, LOC108169207, LOC110121073, LOC110121174, LOC111413040, LOC111589214, LOC113146415, LOC113146417, LOC113146418, LOC113146419, LOC116183069, LOC116183070, LOC116183071, LOC116183072, LOC116183073, LOC116183074, LOC121132708, LOC121740667, LOC123864073, LOC123864074, LOC123864075, LOC123864076, LOC123864077, LOC123864078, LOC123864079, LOC123864080, LOC123864081, LOC123864082, LOC123864083, LOC123864084, LOC123864085, LOC123864086, LOC124900217, LOC126859799, LOC126859800, LOC126859801, LOC126859802, LOC126859803, LOC126859804, LOC126859805, LOC126859806, LOC126859807, LOC126859808, LOC126859809, LOC126859810, LOC126859811, LOC128669075, LOC129389649, LOC129389650, LOC129389651, LOC129389652, LOC129389653, LOC129389654, LOC129389655, LOC129389656, LOC129389657, LOC129389658, LOC129389659, LOC129389660, LOC129389661, LOC129389662, LOC129389663, LOC129389664, LOC129389665, LOC129389666, LOC129997199, LOC129997200, LOC129997201, LOC129997202, LOC129997203, LOC129997204, LOC129997205, LOC129997206, LOC129997207, LOC129997208, LOC129997209, LOC129997210, LOC129997211, LOC129997212, LOC129997213, LOC129997214, LOC129997215, LOC129997216, LOC129997217, LOC129997218, LOC129997219, LOC129997220, LOC129997221, LOC129997222, LOC129997223, LOC129997224, LOC129997225, LOC129997226, LOC129997227, LOC129997228, LOC129997229, LOC129997230, LOC129997231, LOC129997232, LOC129997233, LOC129997234, LOC129997235, LOC129997236, LOC129997237, LOC129997238, LOC129997239, LOC129997240, LOC129997241, LOC129997242, LOC129997243, LOC129997244, LOC129997245, LOC129997246, LOC129997247, LOC129997248, LOC129997249, LOC129997250, LOC129997251, LOC129997252, LOC129997253, LOC129997254, LOC129997255, LOC129997256, LOC129997257, LOC129997258, LOC129997259, LOC129997260, LOC129997261, LOC129997262, LOC129997263, LOC129997264, LOC129997265, LOC129997266, LOC129997267, LOC129997268, LOC129997269, LOC129997270, LOC129997271, LOC129997272, LOC129997273, LOC129997274, LOC129997275, LOC129997276, LOC129997277, LOC129997278, LOC129997279, LOC129997280, LOC129997281, LOC129997282, LOC129997283, LOC129997284, LOC129997285, LOC129997286, LOC129997287, LOC129997288, LOC129997289, LOC129997290, LOC129997291, LOC129997292, LOC129997293, LOC129997294, LOC129997295, LOC129997296, LOC129997297, LOC129997298, LOC129997299, LOC129997300, LOC129997301, LOC129997302, LOC129997303, LOC129997304, LOC129997305, LOC129997306, LOC129997307, LOC129997308, LOC129997309, LOC129997310, LOC129997311, LOC129997312, LOC129997313, LOC129997314, LOC129997315, LOC132089349, LOC132089350, LOC132089351, LOC132089352, LOC132089353, LOC132089354, LOC132089355, LOC132089356, LOC132089357, LOC132089358, LOC132089359, LOC132089360, LOC132089361, LOC132089362, LOC132089363, LOC132089364, LOC132089365, LOC132089366, LOC132089367, LOC132089368, LOC132089369, LOC132089370, LOC132090769, LOC132090770, MAP3K5, MAP7, MIR3145, MIR3662, MIR3668, MIR4465, MIR548A2, MTFR2, MYB, NHEG1, NHSL1, NMBR, OLIG3, PBOV1, PDE7B, PERP, PEX7, REPS1, SIMALR, SLC35D3, SMIM28, TNFAIP3, TXLNB, VTA1, WAKMAR2 1 0 0 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 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 0 0 1
ACKR1, ADAMTS4, AIM2, APCS, APOA2, ARHGAP30, ATF6, ATP1A2, ATP1A4, B4GALT3, C1orf226, CADM3, CASQ1, CD244, CD48, CD84, CFAP126, CFAP45, COPA, CRP, DCAF8, DCAF8-DT, DDR2, DEDD, DUSP12, DUSP23, F11R, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRL6, FCRLA, FCRLB, HSPA6, IFI16, IGSF8, IGSF9, ITLN1, ITLN2, KCNJ10, KCNJ9, KLHDC9, LY9, MNDA, MPZ, NCSTN, NDUFS2, NECTIN4, NHLH1, NIT1, NOS1AP, NR1I3, OLFML2B, OR10J1, OR10J3, OR10J5, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, PCP4L1, PEA15, PEX19, PFDN2, PIGM, PPOX, PYHIN1, SDHC, SH2D1B, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SNHG28, SPATA46, SPTA1, TAGLN2, TOMM40L, TSTD1, UAP1, UFC1, UHMK1, USF1, USP21, VANGL2, VSIG8 0 0 1 0 0 0 0 0 1
ACTL6A 0 1 0 0 0 0 0 0 1
ACTN3, ACY3, AIP, ALDH3B1, ALDH3B2, ANKRD13D, ANO1, AP5B1, B4GAT1, BANF1, BBS1, BRMS1, C11orf24, C11orf68, C11orf86, CABP2, CABP4, CAPN1, CARNS1, CATSPER1, CCDC85B, CCDC87, CCND1, CCS, CD248, CDC42EP2, CDK2AP2, CFL1, CHKA, CLCF1, CNIH2, CORO1B, CPT1A, CST6, CTSF, CTSW, DPF2, DPP3, DRAP1, EFEMP2, EHBP1L1, EIF1AD, FADD, FAM89B, FGF19, FGF3, FGF4, FIBP, FOSL1, FRMD8, GAL, GAL3ST3, GPR152, GRK2, GSTP1, IGHMBP2, KAT5, KCNK7, KDM2A, KLC2, KMT5B, LRFN4, LRP5, LTBP3, LTO1, MALAT1, MAP3K11, MRGPRD, MRGPRF, MRPL11, MRPL21, MUS81, MYEOV, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NPAS4, NUDT8, OVOL1, PACS1, PC, PCNX3, PELI3, PITPNM1, POLA2, POLD4, PPP1CA, PPP6R3, PTPRCAP, RAB1B, RAD9A, RBM14, RBM14-RBM4, RBM4, RBM4B, RCE1, RELA, RHOD, RIN1, RNASEH2C, RPS6KB2, SART1, SCYL1, SF3B2, SIPA1, SLC25A45, SLC29A2, SNX32, SPTBN2, SSH3, SYT12, TBC1D10C, TBX10, TCIRG1, TESMIN, TIGD3, TMEM134, TMEM151A, TOP6BL, TPCN2, TSGA10IP, UNC93B1, YIF1A, ZDHHC24, ZNRD2 0 0 1 0 0 0 0 0 1
ADA2, ARVCF, ATP6V1E1, BCL2L13, BID, C22orf39, CDC45, CECR2, CECR3, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, ESS2, GNB1L, GP1BB, GSC2, HDHD5, HIRA, IL17RA, MICAL3, MRPL40, PEX26, PRODH, RTL10, SEPTIN5, SLC25A1, SLC25A18, TANGO2, TBX1, TMEM121B, TSSK2, TUBA8, TXNRD2, UFD1, USP18 1 0 0 0 0 0 0 0 1
ADA2, ATP6V1E1, BCL2L13, BID, CECR2, CECR3, HDHD5, IL17RA, MICAL3, PEX26, SLC25A18, TMEM121B 0 0 1 0 0 0 0 0 1
ADA2, HDHD5, IL17RA, TMEM121B 0 0 1 0 0 0 0 0 1
ADAM30, HAO2, HMGCS2, HSD3B1, HSD3B2, NOTCH2, PHGDH, REG4, TBX15, WARS2, ZNF697 0 0 1 0 0 0 0 0 1
ADAM30, HMGCS2, NOTCH2, PHGDH, REG4 0 0 1 0 0 0 0 0 1
ADAR, AQP10, ATP8B2, C1orf43, CFAP141, CHRNB2, CREB3L4, CRTC2, DENND4B, GATAD2B, HAX1, IL6R, JTB, NUP210L, RAB13, RPS27, SHE, SLC39A1, TDRD10, TPM3, UBAP2L, UBE2Q1 0 0 1 0 0 0 0 0 1
ADAR, CHRNB2, IL6R, SHE, TDRD10, UBE2Q1 1 0 0 0 0 0 0 0 1
ADGRG2, MAP3K15, PDHA1, SH3KBP1 0 0 1 0 0 0 0 0 1
AGK 1 0 0 0 0 0 0 0 1
AIDA, BPNT1, BROX, C1orf115, DISP1, DUSP10, EPRS1, ESRRG, FAM177B, GPATCH2, HHIPL2, HLX, IARS2, KCNK2, KCTD3, LYPLAL1, MARK1, MIA3, MIR194-1, MIR215, MTARC1, MTARC2, RAB3GAP2, RRP15, SLC30A10, SPATA17, TAF1A, TGFB2, USH2A 1 0 0 0 0 0 0 0 1
AIP, LOC130006204 0 1 0 0 0 0 0 0 1
AIP, LOC130006204, LOC130006205, LOC130006206, LOC130006207 0 1 0 0 0 0 0 0 1
AIP, LOC130006206, LOC130006207 0 1 0 0 0 0 0 0 1
AMIGO3, AMT, APEH, ARIH2, ARIH2OS, BSN, C3orf62, CAMKV, CCDC71, CDHR4, CELSR3, CIMIP7, COL7A1, DAG1, DALRD3, GMPPB, GNAI2, GNAT1, GPX1, HYAL1, HYAL3, IFRD2, IHO1, IMPDH2, INKA1, IP6K1, IP6K2, KLHDC8B, LAMB2, LSMEM2, MIR191, MON1A, MST1, MST1R, NAA80, NCKIPSD, NDUFAF3, NICN1, P4HTM, PFKFB4, PRKAR2A, QARS1, QRICH1, RBM5, RBM6, RHOA, RNF123, SEMA3B, SEMA3F, SHISA5, SLC25A20, SLC26A6, SLC38A3, TCTA, TMEM89, TRAIP, TREX1, UBA7, UCN2, UQCRC1, USP19, USP4, WDR6 1 0 0 0 0 0 0 0 1
ANKH, LOC129993725 0 0 1 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 1
AP5B1, CFL1, EFEMP2, EHBP1L1, FAM89B, KAT5, KCNK7, LTBP3, MAP3K11, MUS81, OVOL1, PCNX3, RELA, RNASEH2C, SIPA1, SNX32, ZNRD2 0 0 1 0 0 0 0 0 1
APC, LOC129994371 0 0 1 0 0 0 0 0 1
ARID3B, C15orf39, CCDC33, CIMAP1C, CLK3, COMMD4, COX5A, CPLX3, CSK, CSPG4, CYP11A1, CYP1A1, CYP1A2, EDC3, ETFA, FAM219B, FBXO22, GOLGA6A, GOLGA6C, GOLGA6D, IMP3, ISL2, ISLR, ISLR2, LMAN1L, LOXL1, MAN2C1, MPI, NEIL1, NRG4, PML, PPCDC, PSTPIP1, PTPN9, RCN2, RPP25, SCAMP2, SCAMP5, SCAPER, SEMA7A, SIN3A, SNUPN, SNX33, STOML1, STRA6, TMEM266, UBE2Q2, UBL7, ULK3 0 0 1 0 0 0 0 0 1
ASXL1 1 0 0 0 0 0 0 0 1
ATM 1 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 1
BCO1, CMIP, GAN, GCSH, PKD1L2, PLCG2 0 0 1 0 0 0 0 0 1
BCR, LOC107963955 0 0 0 0 0 0 0 1 1
BEST2, CACNA1A, CALR, DAND5, DHPS, DNASE2, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KLF1, LYL1, MAN2B1, MAST1, NACC1, NFIX, PRDX2, RAD23A, RNASEH2A, RTBDN, STX10, SYCE2, TNPO2, TRIR, TRMT1, WDR83, WDR83OS 1 0 0 0 0 0 0 0 1
BLCAP, CTNNBL1, GHRH, MANBAL, MROH8, NNAT, RBL1, RPN2, SAMHD1, SRC 0 0 1 0 0 0 0 0 1
BNIP1 0 0 1 0 0 0 0 0 1
BPNT1, C1orf115, DUSP10, EPRS1, ESRRG, GPATCH2, HLX, IARS2, KCTD3, LYPLAL1, MARK1, MIR194-1, MIR215, MTARC1, MTARC2, RAB3GAP2, RRP15, SLC30A10, SPATA17, TGFB2, USH2A 1 0 0 0 0 0 0 0 1
BPNT1, EPRS1, ESRRG, GPATCH2, LYPLAL1, RRP15, SLC30A10, SPATA17, TGFB2, USH2A 1 0 0 0 0 0 0 0 1
BRD8, CDC23, CDC25C, CTNNA1, DNAJC18, ECSCR, EGR1, ETF1, FAM13B, FAM53C, GFRA3, HNRNPA0, HSPA9, KDM3B, KIF20A, KLHL3, LRRTM2, MATR3, MYOT, MZB1, NME5, PAIP2, PKD2L2, PROB1, REEP2, SIL1, SLC23A1, SNHG4, SPATA24, STING1, WNT8A 0 0 1 0 0 0 0 0 1
CCN3, COL14A1, COLEC10, DEPTOR, DSCC1, ENPP2, EXT1, MAL2, MRPL13, MTBP, SAMD12, SNTB1, TAF2, TNFRSF11B 1 0 0 0 0 0 0 0 1
CDH23, VSIR 0 0 0 1 0 0 0 0 1
CEBPE 1 0 0 0 0 0 0 0 1
CEP152, FBN1 1 0 0 0 0 0 0 0 1
CEP152, FBN1, FBN1-DT, LOC113939944, LOC125078076, LOC126862125, LOC130057018, LOC130057019, LOC130057020, LOC130057021, LOC130057022, LOC130057023 1 0 0 0 0 0 0 0 1
CLCN6, KIAA2013, MFN2, MTHFR, NPPA, NPPB, PLOD1 0 0 1 0 0 0 0 0 1
COL5A1 0 0 0 1 0 0 0 0 1
COL9A2, LOC129930261 0 0 0 0 1 0 0 0 1
COPA, NCSTN 0 0 1 0 0 0 0 0 1
CSNK2A1, RBCK1, SCRT2, SLC52A3, SRXN1, TBC1D20, TCF15 0 0 1 0 0 0 0 0 1
CTXN2, DUT, FBN1, MYEF2, SEMA6D, SLC12A1, SLC24A5 1 0 0 0 0 0 0 0 1
CYLD, NOD2, SALL1 0 0 1 0 0 0 0 0 1
DCLRE1C 0 1 0 0 0 0 0 0 1
DDX41 1 0 0 0 0 0 0 0 1
DLX3 0 1 0 0 0 0 0 0 1
DNAJC18, ECSCR, MATR3, MZB1, PAIP2, PROB1, SIL1, SLC23A1, SNHG4, SPATA24, STING1 0 0 1 0 0 0 0 0 1
DNASE2, GCDH, KLF1, MAST1, RNASEH2A, RTBDN, SYCE2 0 0 1 0 0 0 0 0 1
DPY30, MEMO1, NLRC4, SLC30A6, SPAST, SRD5A2, XDH 0 0 1 0 0 0 0 0 1
EMILIN1 0 0 0 0 0 0 0 1 1
EPRS1, ESRRG, GPATCH2, LYPLAL1, RRP15, SLC30A10, SPATA17, TGFB2 1 0 0 0 0 0 0 0 1
ESRRB, GPATCH2L, IFT43, TGFB3, TTLL5 0 0 1 0 0 0 0 0 1
ESRRG, GPATCH2, LYPLAL1, RRP15, SPATA17, TGFB2 1 0 0 0 0 0 0 0 1
EXT1, LOC124188206 1 0 0 0 0 0 0 0 1
EXT2, LOC130005600, LOC130005601 1 0 0 0 0 0 0 0 1
FAM193A, HAUS3, MXD4, NAT8L, POLN, RNF4, SH3BP2, TNIP2, ZFYVE28 0 0 1 0 0 0 0 0 1
FBN1, LOC113939944, LOC125078076, LOC126862124, LOC126862125 1 0 0 0 0 0 0 0 1
FBN1, LOC113939944, LOC126862125, LOC130057018 0 1 0 0 0 0 0 0 1
FBN1, LOC113939944, LOC126862125, LOC130057018, LOC130057019 1 0 0 0 0 0 0 0 1
FBN1, LOC125078076 1 0 0 0 0 0 0 0 1
FH 0 1 0 0 0 0 0 0 1
FLNA 0 0 1 0 0 0 0 0 1
FLT3, MYO18A 0 1 0 0 0 0 0 0 1
G6PD, IKBKG, LOC108281126 0 0 1 0 0 0 0 0 1
GCSAML, NLRP3, OR11L1, OR13G1, OR14A16, OR1C1, OR2B11, OR2C3, OR2G2, OR2G3, OR2W3, OR6F1, TRIM58 0 0 1 0 0 0 0 0 1
GNPTAB 0 1 0 0 0 0 0 0 1
GPATCH2, RRP15, SPATA17, TGFB2 1 0 0 0 0 0 0 0 1
HMGA2 0 0 1 0 0 0 0 0 1
IFNAR2-IL10RB, IL10RB, LOC130066558, LOC130066559, LOC130066560 0 0 1 0 0 0 0 0 1
IKZF1 0 0 1 0 0 0 0 0 1
IL1F10, IL1RN, IL36RN 1 0 0 0 0 0 0 0 1
IL1F10, IL36RN 0 1 0 0 0 0 0 0 1
IL1R1 1 0 0 0 0 0 0 0 1
IL21 0 0 0 0 1 0 0 0 1
LAMA5 0 0 1 0 0 0 0 0 1
LOC112577524, LOC121967049, LOC126805579, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, SKI 0 0 1 0 0 0 0 0 1
LOC129929423, MFN2, PLOD1 0 0 0 0 1 0 0 0 1
LOC129992074, SH3BP2 0 0 1 0 0 0 0 0 1
LOC130057652, LOC130057653, PSTPIP1 0 0 1 0 0 0 0 0 1
LOC130059250, PSMB10 1 0 0 0 0 0 0 0 1
LOC130063807, NOTCH3 0 0 1 0 0 0 0 0 1
LOC130065264, RBCK1 0 0 1 0 0 0 0 0 1
LPIN2, MYL12A, MYL12B, MYOM1, TGIF1 0 0 1 0 0 0 0 0 1
LRP2 0 1 0 0 0 0 0 0 1
LSM11 1 0 0 0 0 0 0 0 1
MFN2, PLOD1 0 0 0 0 1 0 0 0 1
MFSD11, SRSF2 1 0 0 0 0 0 0 0 1
MMAB, MVK, UBE3B 0 0 1 0 0 0 0 0 1
MYADM, NLRP12, PRKCG 0 0 1 0 0 0 0 0 1
NFKBIA 0 0 1 0 0 0 0 0 1
NRAS 1 0 0 0 0 0 0 0 1
PMEPA1 0 0 1 0 0 0 0 0 1
PTCH1 0 0 1 0 0 0 0 0 1
RAPGEFL1 0 0 1 0 0 0 0 0 1
RIT1 0 0 0 1 0 0 0 0 1
RNF31 0 0 1 0 0 0 0 0 1
RNU7-1 1 0 0 0 0 0 0 0 1
RRP15, TGFB2 1 0 0 0 0 0 0 0 1
RUNX1 1 0 0 0 0 0 0 0 1
SCNN1A, TNFRSF1A 0 0 0 1 0 0 0 0 1
SF3B1 1 0 0 0 0 0 0 0 1
SMAD6 0 0 1 0 0 0 0 0 1
TGFB1 1 0 0 0 0 0 0 0 1
TREX1 0 1 0 0 0 0 0 0 1
VPS41 0 1 0 0 0 0 0 0 1
WT1 0 0 1 0 0 0 0 0 1
ZCCHC8 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 329
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3111 692 13392 13165 1666 4 0 0 32030
Illumina Laboratory Services, Illumina 23 8 2571 686 1247 0 0 0 4479
Fulgent Genetics, Fulgent Genetics 222 338 2843 697 58 0 0 0 4157
All of Us Research Program, National Institutes of Health 17 33 1384 790 55 0 0 0 2279
Baylor Genetics 131 196 453 1 0 0 0 0 778
Center for Medical Genetics Ghent, University of Ghent 176 358 175 14 0 0 0 0 722
OMIM 670 0 5 0 0 0 5 0 680
Genome-Nilou Lab 5 7 196 186 415 0 0 0 638
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 0 0 514 514
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 6 138 142 144 0 0 0 433
PXE International 74 114 143 7 32 0 0 0 370
Centre of Medical Genetics, University of Antwerp 171 112 17 0 0 0 0 0 300
Natera, Inc. 13 2 196 44 21 0 0 0 276
Mendelics 54 36 107 21 39 0 0 0 257
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 32 17 176 22 6 0 0 0 250
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 79 112 19 8 29 0 0 0 247
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 85 123 2 0 0 0 0 0 210
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 86 38 68 6 0 0 0 0 198
GeneReviews 6 8 0 1 0 0 0 177 192
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 29 43 78 7 1 0 0 0 158
Revvity Omics, Revvity 13 16 122 2 0 0 0 0 153
3billion, Medical Genetics 38 57 24 11 0 0 0 0 130
Center for Human Genetics, Inc, Center for Human Genetics, Inc 41 41 27 18 1 0 0 0 128
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 43 51 16 3 7 0 0 0 120
Juno Genomics, Hangzhou Juno Genomics, Inc 57 40 22 0 0 0 0 0 119
Neuberg Centre For Genomic Medicine, NCGM 18 27 73 0 0 0 0 0 118
Institute of Human Genetics, University of Leipzig Medical Center 32 26 27 3 1 0 0 0 89
Centre for Mendelian Genomics, University Medical Centre Ljubljana 20 17 45 2 0 0 0 0 84
MGZ Medical Genetics Center 13 35 32 1 0 0 0 0 81
Blueprint Genetics 10 49 20 1 0 0 0 0 80
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 28 34 11 0 0 0 0 0 73
Department of Laboratory Medicine and Genetics, Samsung Medical Center 17 26 28 0 0 0 0 0 71
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 12 22 35 0 0 0 0 0 69
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 2 61 2 0 0 0 0 67
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 2 0 17 50 1 0 0 65
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 33 23 5 1 0 0 0 0 61
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 9 41 0 0 0 50
Genetics and Molecular Pathology, SA Pathology 6 14 18 9 1 0 0 0 48
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 25 21 2 0 0 0 0 0 48
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 15 6 18 6 4 0 0 0 48
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 34 9 3 0 0 0 0 0 46
New York Genome Center 3 3 40 0 0 0 0 0 46
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 19 15 8 0 0 0 0 0 42
GenomeConnect, ClinGen 0 0 0 0 0 0 0 42 42
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 14 25 0 0 0 40
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 27 12 0 0 0 40
Institute of Human Genetics, Cologne University 9 18 11 1 0 0 0 0 39
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 32 6 0 0 0 0 0 0 38
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 5 24 2 0 0 0 0 37
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 37 37
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 4 30 0 0 0 35
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 1 19 12 0 0 0 0 34
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 11 14 6 0 0 0 0 0 31
Johns Hopkins Genomics, Johns Hopkins University 10 6 14 1 0 0 0 0 31
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 22 8 1 0 0 0 0 0 31
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 13 6 11 0 0 0 0 0 30
Molecular Genetics, Royal Melbourne Hospital 5 7 12 4 2 0 0 0 30
Rajkovic Lab, University of Pittsburgh 0 0 0 0 0 28 0 0 28
Centogene AG - the Rare Disease Company 8 8 11 0 0 0 0 0 27
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 8 14 5 0 0 0 0 0 27
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 18 7 1 0 0 0 0 0 26
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 12 13 0 0 0 0 0 0 25
CSER _CC_NCGL, University of Washington 0 0 16 8 1 0 0 0 25
Department of Human Genetics, Hannover Medical School 6 3 15 0 0 0 0 0 24
deCODE genetics, Amgen 8 15 0 0 0 0 0 0 23
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 4 4 15 0 0 0 0 0 23
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 12 9 1 0 0 0 0 0 22
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 11 7 0 0 0 0 0 22
Clinical Genomics Laboratory, Washington University in St. Louis 3 4 14 0 0 0 0 0 21
Clinical and Biomedical Sciences, University of Exeter 9 5 6 0 0 0 0 0 20
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 5 7 7 0 0 0 0 0 19
Undiagnosed Diseases Network, NIH 9 2 8 0 0 0 0 0 19
Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine 19 0 0 0 0 0 0 0 19
MVZ Medizinische Genetik Mainz 3 6 9 0 0 0 0 0 18
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 11 5 0 1 0 0 0 0 17
Demoulin lab, University of Louvain 15 1 0 0 0 0 0 0 16
Institute of Human Genetics, University Hospital Muenster 3 6 5 2 0 0 0 0 16
SIB Swiss Institute of Bioinformatics 1 11 2 1 0 0 0 0 15
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 7 7 0 0 0 0 0 0 14
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 5 4 5 0 0 0 0 0 14
Suma Genomics 6 6 2 0 0 0 0 0 14
DASA 11 3 0 0 0 0 0 0 14
Medical Biology Lab, Gaziantep University 0 0 0 0 0 0 0 13 13
Institute of Human Genetics, University Hospital of Duesseldorf 5 3 4 1 0 0 0 0 13
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 10 3 0 0 0 0 0 0 13
Genomics England Pilot Project, Genomics England 3 10 0 0 0 0 0 0 13
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 6 0 0 0 0 0 0 12
Laboratory of Functional Genomics, Research Centre for Medical Genetics 2 6 4 0 0 0 0 0 12
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 4 5 0 0 0 0 0 12
Genetic Services Laboratory, University of Chicago 6 4 1 0 0 0 0 0 11
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 6 2 3 0 0 0 11
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 0 8 0 0 0 0 0 11
Center of Genomic medicine, Geneva, University Hospital of Geneva 6 3 2 0 0 0 0 0 11
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 5 1 0 0 0 0 0 11
Institute of Human Genetics, University of Goettingen 0 2 8 0 0 0 0 0 10
Counsyl 2 3 3 1 1 0 0 0 10
Mayo Clinic Laboratories, Mayo Clinic 1 1 8 0 0 0 0 0 10
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 3 1 0 0 0 0 0 10
Yale Center for Mendelian Genomics, Yale University 10 0 0 0 0 0 0 0 10
Reproductive Health Research and Development, BGI Genomics 2 1 2 4 1 0 0 0 10
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 2 7 1 0 0 0 0 0 10
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 6 4 0 0 0 0 0 0 10
Cohesion Phenomics 0 0 0 6 4 0 0 0 10
Genetics Department, University Hospital of Toulouse 5 3 1 0 0 0 0 0 9
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 2 2 5 0 0 0 0 0 9
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 8 0 0 0 0 0 0 8
Klein lab, Ludwig-Maximilians-University 8 0 0 0 0 0 0 0 8
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 3 4 0 0 0 0 0 8
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 4 3 0 0 0 0 0 8
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 2 5 0 0 0 0 0 8
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 3 3 0 1 0 0 0 8
Clinical Genetics and Genomics, Karolinska University Hospital 5 2 0 0 0 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 4 0 0 0 0 0 7
Hadassah Hebrew University Medical Center 3 4 0 0 0 0 0 0 7
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 2 2 0 0 0 0 0 7
Center of Medical Genetics, Central South University 2 2 1 1 1 0 0 0 7
Breda Genetics srl 2 1 4 0 0 0 0 0 7
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 3 1 3 0 0 0 0 0 7
Aleixo Muise Laboratory, Hospital For Sick Children 4 3 0 0 0 0 0 0 7
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 4 3 0 0 0 0 0 0 7
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 4 0 0 0 0 0 0 6
Division of Human Genetics, Children's Hospital of Philadelphia 0 2 4 0 0 0 0 0 6
Clinical Genetics Laboratory, Region Ostergotland 2 4 0 0 0 0 0 0 6
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 3 3 0 0 0 0 0 0 6
Lifecell International Pvt. Ltd 4 2 0 0 0 0 0 0 6
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 2 3 0 0 0 0 0 6
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 6 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 6
Breakthrough Genomics, Breakthrough Genomics 3 3 0 0 0 0 0 0 6
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 3 0 0 0 0 0 5
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 4 0 1 0 0 0 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 3 2 0 0 0 0 5
Daryl Scott Lab, Baylor College of Medicine 0 0 5 0 0 0 0 0 5
Sharon lab, Hadassah-Hebrew University Medical Center 2 3 0 0 0 0 0 0 5
Zhou Lab, Center of Laboratory Medicine, Fuwai Hospital 5 0 0 0 0 0 0 0 5
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 3 0 0 0 0 0 5
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 2 0 0 0 0 0 0 5
Institute of Human Genetics, Heidelberg University 2 3 0 0 0 0 0 0 5
Myriad Genetics, Inc. 4 1 0 0 0 0 0 0 5
Clinical Genomics Laboratory, Stanford Medicine 3 0 2 0 0 0 0 0 5
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 2 3 0 0 0 0 0 5
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 5 0 0 0 0 0 0 0 5
Institute of Laboratory Medicine, Hospital Wels-Grieskirchen 4 0 1 0 0 0 0 0 5
Dr.Nikuei Genetic Center 2 0 0 1 2 0 0 0 5
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 1 3 1 0 0 0 0 0 5
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 2 0 0 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 1 3 0 0 0 0 0 0 4
Medical Genetics of Dicle University 0 0 0 0 0 0 0 4 4
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 2 2 0 0 0 0 0 4
Aziz Sancar Institute of Experimental Medicine, Istanbul University 2 2 0 0 0 0 0 0 4
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 3 0 0 0 0 0 0 4
Center for Molecular Medicine, Children’s Hospital of Fudan University 3 1 0 0 0 0 0 0 4
Clinical Bioinformatic Lab, Royan Institute 1 3 0 0 0 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 2 1 1 0 0 0 0 0 4
Genomics Facility, Ludwig-Maximilians-Universität München 1 3 0 0 0 0 0 0 4
Center of Excellence for Medical Genomics, Chulalongkorn University 1 2 1 0 0 0 0 0 4
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 2 2 0 0 0 0 0 0 4
Human Genetics Bochum, Ruhr University Bochum 2 2 0 0 0 0 0 0 4
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 3 1 0 0 0 0 0 0 4
Institute of Neurology, Charite University of Medicine 0 1 0 3 0 0 0 0 4
Druker Lab, Oregon Health and Sciences University 3 0 1 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 1 0 0 0 0 0 3
Inflammatory Disease Section/Clinical Genetics Service, National Human Genome Research Institute 3 0 0 0 0 0 0 0 3
Elahi Laboratory, University of Tehran 2 0 1 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 3 3
Atomic Energy Commission of Syria (AECS) 0 0 0 3 0 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 0 0 0 0 0 3
Miami Human Genetics, University Of Miami Miller School Of Medicine 2 0 1 0 0 0 0 0 3
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 3 0 0 0 0 0 0 3
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 3 0 0 0 0 0 0 0 3
Department of Medical Genetics, Gazi University 3 0 0 0 0 0 0 0 3
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 2 0 0 0 0 3
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 2 0 0 0 0 0 0 3
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 2 0 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 2 1 0 0 0 0 0 0 3
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 2 0 0 0 0 0 0 3
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 2 0 0 0 0 0 3
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 1 2 0 0 0 0 0 3
Molecular Genetics Laboratory, Motol Hospital 0 3 0 0 0 0 0 0 3
Healthincode, Healthincode group 2 0 1 0 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 3 3
Heart Medical Centre, First Affiliated Hospital of Gannan Medical University 3 0 0 0 0 0 0 0 3
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 2 0 0 0 0 0 0 3
Arcensus 2 1 0 0 0 0 0 0 3
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 3 0 0 0 0 0 0 3
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 2 0 0 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 0 0 3
Genomics And Bioinformatics Analysis Resource, Columbia University 2 1 0 0 0 0 0 0 3
Paediatric Laboratory, Institute for Maternal and Child Health - IRCCS Burlo Garofolo 0 0 3 0 0 0 0 0 3
Research Laboratory Environment, Inflammation, Signaling and Pathologies, Faculty of Medicine, University of Monastir 3 0 0 0 0 0 0 0 3
Center for Applied Genomics, Children's Hospital of Philadelphia 0 0 0 0 0 0 0 2 2
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 2 0 0 0 0 0 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 2 0 0 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 0 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 0 0 0 2
Korbonits Lab, Queen Mary University of London 0 1 1 0 0 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 1 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 1 0 0 0 0 0 2
Wangler Lab, Baylor College of Medicine 1 0 1 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 2 0 0 0 0 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 1 0 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 1 1 0 0 0 0 0 0 2
Metabolic Disease laboratory, Sheba Medical Center 2 0 0 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 2 0 0 0 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 0 0 0 2
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 2 0 0 0 0 0 0 2
GenomeConnect - CureCADASIL 0 0 0 0 0 0 0 2 2
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 2 0 0 0 0 0 0 0 2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 2 0 0 0 0 0 0 0 2
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 2 0 0 0 0 0 0 2
Geng Laboratory, The Second Hospital Affiliated to Xi’an Jiaotong University 0 0 2 0 0 0 0 0 2
Vinuesa Lab, Australian National University 0 0 0 0 0 2 0 0 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 2 0 0 0 0 0 0 0 2
Molecular Genetics Laboratory, Biobizkaia Health Research Institute 0 0 2 0 0 0 0 0 2
MNM Diagnostics 1 0 0 1 0 0 0 0 2
Department of Cell Biology, School of Life Sciences, Central South University 2 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 2
Yu Lab, Soochow University 1 1 0 0 0 0 0 0 2
Institute of Medical Genetics, Medical University of Vienna 2 0 0 0 0 0 0 0 2
Servicio de Inmunologia, Hospital Universitario Virgen del Rocio 2 0 0 0 0 0 0 0 2
DBGen Ocular Genomics 2 0 0 0 0 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 0 2 0 0 0 0 0 0 2
Eurofins-Biomnis 2 0 0 0 0 0 0 0 2
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 2 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 0 0 2
Zankl Lab, University of Sydney 2 0 0 0 0 0 0 0 2
Genetics Department, Hospital De La Santa Creu I Sant Pau 0 2 0 0 0 0 0 0 2
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 1 0 0 0 0 0 2
Shaine Morris Lab, Baylor College of Medicine 0 2 0 0 0 0 0 0 2
Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University 2 0 0 0 0 0 0 0 2
Department of Immunology, Beijing Children's Hospital of Capital Medical University 1 1 0 0 0 0 0 0 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 0 0 0 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 0 1 0 0 0 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 1 0 0 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 0 0 1
Health in Code S.L. 1 0 0 0 0 0 0 0 1
SNPedia 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 0 1
Laboratório de Genética Molecula, r University of Campinas - Unicamp 0 0 0 0 0 0 0 1 1
CHU Sainte-Justine Research Center, University of Montreal 0 1 0 0 0 0 0 0 1
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences 0 0 1 0 0 0 0 0 1
Bone Marrow Failure laboratory, Queen Mary University London 0 1 0 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 0 0 1
Dobyns Lab, Seattle Children's Research Institute 1 0 0 0 0 0 0 0 1
Center for Human Genetics, University of Leuven 1 0 0 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 0 1 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 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 0 0 1
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 1 0 0 0 0 0 0 0 1
Hunter Genetics General Clinical Genetics Service, Hunter Genetics 1 0 0 0 0 0 0 0 1
Labor Lademannbogen MVZ GmbH 0 1 0 0 0 0 0 0 1
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 1 0 0 0 0 0 0 0 1
Laboratory of Dr Salvatore DiMauro, H. Houston Merritt Clinical Research Center., Columbia University Medical Center 1 0 0 0 0 0 0 0 1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 0 1 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 1 0 0 0 0 0 0 0 1
Medical Genetics Clinic, Mersin Women and Children Hospital 0 1 0 0 0 0 0 0 1
Clinical Genetics Department, Hospital Sant Joan de Deu 1 0 0 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 0 0 1
Genomics For Life 1 0 0 0 0 0 0 0 1
Knight Cancer Institute, Oregon Health and Science University 0 1 0 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 0 0 1
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 0 0 1
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre 1 0 0 0 0 0 0 0 1
Division of Neonatology, National Center for Child Health and Development 1 0 0 0 0 0 0 0 1
Center of Clinical Laboratory, Zhongshan Hospital, School of Medicine, Xiamen University 1 0 0 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 1 0 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 0 0 1
Neurology Institute, Anhui University of Chinese Medicine 1 0 0 0 0 0 0 0 1
Tan Tock Seng Hospital, National Healthcare Group 1 0 0 0 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 0 0 1 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 0 0 0 1
University Health Network, Princess Margaret Cancer Centre 1 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 0 0 1
Molecular Medicine, University of Pavia 0 1 0 0 0 0 0 0 1
Experimental and Health Sciences Department, Universitat Pompeu Fabra 0 0 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 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 1
Heon Lab, The Hospital for Sick Children 0 1 0 0 0 0 0 0 1
Health Biotechnology Lab, Department of Biotechnology, Abdul Wali Khan University Mardan 0 1 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 0 0 0 0 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 1 0 0 0 0 0 0 0 1
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences 0 1 0 0 0 0 0 0 1
Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics 0 1 0 0 0 0 0 0 1
Division of Clinical Genetics, Department of Laboratory Medicine, University of Debrecen 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 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 0 0 1
School of Medicine, Southern Illinois University 1 0 0 0 0 0 0 0 1
Dept of laboratory medicine, Chungbuk National University Hospital 0 1 0 0 0 0 0 0 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 1 0 0 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, University of Rochester Medical Center 1 0 0 0 0 0 0 0 1
Insititute of Human Genetics, University Giessen, Germany 0 1 0 0 0 0 0 0 1
MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN 1 0 0 0 0 0 0 0 1
Senckenberg Centre for Human Genetics, Bürgerhospital und Clementine Kinderhospital gGmbH 1 0 0 0 0 0 0 0 1
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University 1 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 1
Neurogenetics, Research Centre for Medical Genetics 0 0 0 1 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 0 0 1
Liaoning Province Research Institute of Family Planning, China Medical University 1 0 0 0 0 0 0 0 1
UAEU Genomics Laboratory, United Arab Emirates University 1 0 0 0 0 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 0 0 1
Children's Rare Disease Laboratory, Dongguan Children's Hospital 0 1 0 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 1 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 1
Genetic Laboratory, Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University 0 1 0 0 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 1 0 0 0 0 0 0 0 1
Swedish National ChiCaP Initative, Genomic Medicine Sweden 1 0 0 0 0 0 0 0 1
Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine 1 0 0 0 0 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 0 1 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 0 0 1
Neurogenetics Team, Indira Gandhi Institute of Child Health 0 0 1 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 0 0 1
Department of Endocrinology, The Second Affiliated Hospital of Guangdong Medical University 0 0 1 0 0 0 0 0 1

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