ClinVar Miner

Variants studied for rheumatic disorder

Included ClinVar conditions (145):
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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 affects association likely risk allele risk factor not provided total
975 492 10421 7927 1604 1 17 2 18 620 20358

Gene and significance breakdown #

Total genes and gene combinations: 206
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association likely risk allele risk factor not provided total
PLCG2 6 4 618 597 97 0 0 0 0 1 1285
IFIH1 31 14 702 504 64 0 0 0 0 4 1277
ADAR 47 19 657 405 52 0 0 0 0 3 1151
NOTCH2 37 13 577 426 83 0 0 0 0 0 1109
NLRP12 10 11 731 345 86 0 0 0 0 2 1085
NOD2 15 3 513 338 84 0 3 0 0 81 864
MEFV 17 15 482 478 76 0 0 0 0 117 831
NLRP3 32 22 408 298 68 0 0 0 0 98 808
SAMHD1 102 42 277 373 18 0 0 0 0 19 777
LPIN2 23 18 413 314 57 0 0 0 0 11 768
SH3BP2 9 3 339 236 135 0 0 0 0 0 691
COPA 6 3 269 361 55 0 0 0 0 1 683
NLRC4 6 4 431 222 26 0 0 0 0 0 663
MVK 66 27 182 259 18 0 0 0 0 92 561
PSTPIP1 3 0 297 247 68 0 0 0 0 4 556
ATRIP, ATRIP-TREX1, TREX1 53 30 279 134 18 0 0 0 1 14 486
ADA2 56 31 230 156 16 0 0 0 0 7 457
RBCK1 27 8 183 198 20 0 0 0 0 0 433
TNFRSF1A 19 15 192 171 19 0 0 0 0 86 426
RNASEH2A 18 17 167 204 13 0 0 0 0 8 403
RNASEH2B 27 21 157 199 13 0 0 0 0 0 402
IL10RA 14 7 201 155 39 0 0 0 0 1 389
ACP5 38 5 143 94 12 0 0 0 0 0 284
STING1 7 3 157 85 15 0 0 0 0 0 256
ADAM17, IAH1 7 3 114 102 21 0 0 0 0 0 243
RNASEH2C 3 6 104 121 6 0 0 0 0 1 227
LOC126862264, MEFV 11 9 105 129 16 0 0 0 0 59 216
ADAM17 8 2 91 102 9 0 0 0 0 1 211
IFNAR2-IL10RB, IL10RB 8 4 108 81 14 0 0 0 0 0 202
PSMB8 14 4 113 65 13 0 0 0 0 0 196
IL1RN 10 3 99 67 24 0 0 0 0 0 188
IL36RN 12 7 107 61 23 0 0 0 0 2 181
ANKH, OTULIN 0 0 87 1 62 0 0 0 0 0 150
SKIC2 11 11 52 11 18 0 0 0 0 0 100
CARD14 0 0 59 20 12 0 0 0 0 0 91
ADAR, LOC126805874 9 4 41 37 4 0 0 0 0 0 87
LYST 0 2 48 22 12 0 0 0 0 0 84
SKIC3 18 29 21 5 4 0 0 0 0 0 75
UNC13D 7 8 44 9 5 0 0 0 0 0 73
LOC130006061, RNASEH2C 0 0 33 38 1 0 0 0 0 0 72
LOC117038795, RNASEH2A 5 2 33 27 2 0 0 0 0 3 67
CYLD, NOD2 0 0 37 14 15 0 1 0 0 3 66
SAMHD1, TLDC2 1 0 29 20 11 0 0 0 0 0 58
TNFAIP3 11 6 27 7 5 0 0 0 0 0 56
LOC123522803, STING1 0 0 26 21 5 0 0 0 0 0 52
PRF1 3 5 26 5 7 0 0 0 0 0 46
DNASE1L3 3 1 27 12 0 0 0 0 0 0 43
KAT5, RNASEH2C 0 0 29 5 10 0 0 0 0 0 43
LOC130009810, RNASEH2B 3 2 17 19 0 0 0 0 0 0 40
ANKH 5 1 10 2 21 0 0 0 0 0 39
ELANE 1 2 19 12 4 0 0 0 0 0 38
AP3B1 1 0 14 13 9 0 0 0 0 0 37
CARD14, SGSH 0 0 12 14 10 0 0 0 0 0 36
PRG4 23 8 3 0 5 0 0 0 0 0 36
STXBP2 2 0 16 9 9 0 0 0 0 0 36
BLK 4 0 1 2 21 0 1 2 0 0 31
RAB27A 2 3 21 3 0 0 0 0 0 0 29
CIITA 0 1 25 0 1 0 0 0 1 0 28
IFNAR2-IL10RB, IL10RB, LOC130066558 0 2 10 11 0 0 0 0 0 0 23
ADAR, LOC129931512 0 0 8 10 2 0 0 0 0 0 20
RIGI 2 1 6 1 7 0 0 0 0 1 18
ITK 0 0 12 2 3 0 0 0 0 0 17
LOC126859653, SKIC2 2 2 10 1 3 0 0 0 0 0 17
SLC7A7 1 0 11 2 2 0 0 0 0 0 16
CARD14, LOC126862662, SGSH 0 0 8 2 4 0 0 0 0 0 14
EGFR 4 0 3 1 6 0 0 0 0 0 14
OTULIN 8 0 4 2 0 0 0 0 0 0 14
LOC126859807, TNFAIP3 4 2 4 1 2 0 0 0 0 0 13
LOC130007232, TNFRSF1A 0 0 4 9 1 0 0 0 0 0 13
ANKH, LOC100130744, OTULIN 1 0 0 3 9 0 0 0 0 0 11
LOC130009809, RNASEH2B 0 0 8 2 1 0 0 0 0 0 11
POLA1 1 0 6 4 0 0 0 0 0 0 11
STX11 0 0 7 1 3 0 0 0 0 0 11
C12orf57, RNU7-1 5 2 1 0 0 0 0 0 0 0 8
DOCK11 7 0 1 0 0 0 0 0 0 0 8
PSMB4 4 0 2 0 3 0 0 0 0 0 8
SOCS1 3 4 1 0 0 1 0 0 0 0 8
XIAP 0 1 5 0 2 0 0 0 0 0 8
DNASE1 0 1 3 0 1 0 0 0 2 0 7
LOC130065805, SAMHD1 3 0 0 3 1 0 0 0 0 0 7
MMAB, MVK 0 0 2 2 5 0 0 0 0 0 7
IKBKG 4 0 2 0 0 0 0 0 0 0 6
IL10RA, LOC130006833 1 1 3 1 0 0 0 0 0 0 6
LOC112533672, UNC13D 1 0 3 1 1 0 0 0 0 0 6
NELFE, SKIC2 0 0 5 1 0 0 0 0 0 0 6
PADI4 0 0 0 0 0 0 6 0 0 0 6
PRG4, TPR 4 2 0 0 0 0 0 0 0 0 6
PSMB10 4 0 2 0 0 0 0 0 0 0 6
SH2D1A 0 3 2 0 1 0 0 0 0 0 6
CD27 0 0 3 1 1 0 0 0 0 0 5
ELF4 3 0 2 0 0 0 0 0 0 0 5
LOC126863253, UBA1 5 3 0 0 0 0 0 0 0 0 5
LOC130057651, PSTPIP1 0 0 2 1 3 0 0 0 0 0 5
LOC130058479, SOCS1 2 1 2 0 0 0 0 0 0 0 5
LYN 4 0 1 0 0 0 0 0 0 0 5
POMP 3 0 1 1 0 0 0 0 0 0 5
RIPK1 5 0 0 0 0 0 0 0 0 0 5
USP18 3 3 1 0 0 0 0 0 0 0 5
ADAR, LOC129931513 0 0 3 0 1 0 0 0 0 0 4
BLK, LOC126860303 1 0 0 0 3 0 0 0 0 0 4
IL10RB 3 0 1 0 0 0 0 0 0 0 4
PADI2 0 0 0 0 0 0 4 0 0 0 4
PSMG2 2 0 2 0 0 0 0 0 0 0 4
TLR7 3 0 1 0 0 0 0 0 0 0 4
UBA1 0 0 3 1 0 0 0 0 0 0 4
WNT1 0 0 0 1 0 0 0 0 3 0 4
AP4B1, PTPN22 0 0 2 0 0 0 0 0 1 0 3
CTLA4 1 1 0 0 0 0 0 0 1 0 3
LOC129992073, SH3BP2 0 0 0 1 2 0 0 0 0 0 3
LOC130007233, TNFRSF1A 0 0 3 0 0 0 0 0 0 0 3
PSMB9 2 1 0 0 1 0 0 0 0 0 3
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 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 0 0 2
BLOC1S6 0 0 1 0 1 0 0 0 0 0 2
EMILIN2, LPIN2, SMCHD1 1 0 1 0 0 0 0 0 0 0 2
FCGR2A 0 0 2 0 0 0 0 0 0 0 2
FCGR2B 0 0 0 0 0 0 0 0 2 0 2
IL21, LOC126807147 1 0 1 0 0 0 0 0 0 0 2
LOC129992072, SH3BP2 0 0 0 1 1 0 0 0 0 0 2
LOC130006062, RNASEH2C 0 0 1 1 0 0 0 0 0 0 2
LOC130007233, SCNN1A, TNFRSF1A 0 0 1 2 0 0 0 0 0 0 2
LOC130062090, LOC130062091, LOC130062092, LPIN2 1 0 1 0 0 0 0 0 0 0 2
LOC130064510, TGFB1 2 0 0 0 0 0 0 0 0 0 2
MLKL 0 0 0 0 0 0 2 0 0 0 2
NLRC4, SLC30A6, SPAST 0 0 2 0 0 0 0 0 0 0 2
NLRP3, OR2B11 0 0 2 0 0 0 0 0 0 0 2
PSMA3 2 0 0 0 0 0 0 0 0 0 2
PSMB8, TAP2 0 0 2 0 0 0 0 0 0 0 2
RBCK1, TBC1D20 1 0 1 0 0 0 0 0 0 0 2
TLR1 2 0 0 0 0 0 0 0 0 0 2
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 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, STK19, STK38, SYNGAP1, TAF11, TAP1, TAP2, TAPBP, TCF19, TCP11, TEAD3, TNF, TNXB, TSBP1, TULP1, UQCC2, VARS1, VARS2, VPS52, VWA7, WDR46, ZBTB12, ZBTB22, ZBTB9, ZNF76 0 0 1 0 0 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 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 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 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 0 0 1
ADA2, ATP6V1E1, BCL2L13, BID, CECR2, CECR3, HDHD5, IL17RA, MICAL3, PEX26, SLC25A18, TMEM121B 0 0 1 0 0 0 0 0 0 0 1
ADA2, HDHD5, IL17RA, TMEM121B 0 0 1 0 0 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 0 0 1
ADAM30, HMGCS2, NOTCH2, PHGDH, REG4 0 0 1 0 0 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 0 0 1
ADAR, CHRNB2, IL6R, SHE, TDRD10, UBE2Q1 1 0 0 0 0 0 0 0 0 0 1
AGK 1 0 0 0 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 0 0 1
ANKH, LOC129993725 0 0 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 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 0 0 1
BANK1 0 0 0 0 1 0 0 0 0 0 1
BCO1, CMIP, GAN, GCSH, PKD1L2, PLCG2 0 0 1 0 0 0 0 0 0 0 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 0 0 1
BLCAP, CTNNBL1, GHRH, MANBAL, MROH8, NNAT, RBL1, RPN2, SAMHD1, SRC 0 0 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 0 0 1
BTNL2, TSBP1 0 0 0 0 0 0 0 0 1 0 1
CD244 0 0 0 0 0 0 0 0 1 0 1
CD27, LOC130007242 0 0 1 0 0 0 0 0 0 0 1
CEBPE 1 0 0 0 0 0 0 0 0 0 1
CHRNG 1 0 0 0 0 0 0 0 0 0 1
COPA, NCSTN 0 0 1 0 0 0 0 0 0 0 1
CSNK2A1, RBCK1, SCRT2, SLC52A3, SRXN1, TBC1D20, TCF15 0 0 1 0 0 0 0 0 0 0 1
CYLD, NOD2, SALL1 0 0 1 0 0 0 0 0 0 0 1
DCLRE1C 0 1 0 0 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 0 0 1
DNASE2 0 0 1 0 0 0 0 0 0 0 1
DNASE2, GCDH, KLF1, MAST1, RNASEH2A, RTBDN, SYCE2 0 0 1 0 0 0 0 0 0 0 1
DPY30, MEMO1, NLRC4, SLC30A6, SPAST, SRD5A2, XDH 0 0 1 0 0 0 0 0 0 0 1
ENG 1 0 0 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 0 0 1
G6PD, IKBKG, LOC108281126 0 0 1 0 0 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 0 0 1
HLA-DRB1 0 0 0 0 0 0 0 0 1 0 1
IFNAR2-IL10RB, IL10RB, LOC130066558, LOC130066559, LOC130066560 0 0 1 0 0 0 0 0 0 0 1
IL10, IL19 1 0 0 0 0 0 0 0 0 0 1
IL10, IL19, LOC128462409 0 0 1 0 0 0 0 0 0 0 1
IL1F10, IL1RN, IL36RN 1 0 0 0 0 0 0 0 0 0 1
IL1F10, IL36RN 0 1 0 0 0 0 0 0 0 0 1
IL1R1 1 0 0 0 0 0 0 0 0 0 1
IL21 0 0 0 0 1 0 0 0 0 0 1
IRF5 1 0 0 0 0 0 0 0 0 0 1
LAMA5 0 0 1 0 0 0 0 0 0 0 1
LEMD3 0 0 1 0 0 0 0 0 0 0 1
LOC129992074, SH3BP2 0 0 1 0 0 0 0 0 0 0 1
LOC130055323, SLC7A7 0 0 0 0 1 0 0 0 0 0 1
LOC130057652, LOC130057653, PSTPIP1 0 0 1 0 0 0 0 0 0 0 1
LOC130058478, SOCS1 0 1 0 0 0 0 0 0 0 0 1
LOC130059250, PSMB10 1 0 0 0 0 0 0 0 0 0 1
LOC130065264, RBCK1 0 0 1 0 0 0 0 0 0 0 1
LPIN2, MYL12A, MYL12B, MYOM1, TGIF1 0 0 1 0 0 0 0 0 0 0 1
LSM11 1 0 0 0 0 0 0 0 0 0 1
MMAB, MVK, UBE3B 0 0 1 0 0 0 0 0 0 0 1
MYADM, NLRP12, PRKCG 0 0 1 0 0 0 0 0 0 0 1
NFKBIA 0 0 1 0 0 0 0 0 0 0 1
NFKBIL1 0 0 0 0 0 0 0 0 1 0 1
NOTCH3 0 0 0 0 0 0 0 0 0 1 1
RAPGEFL1 0 0 1 0 0 0 0 0 0 0 1
RASA1 1 0 0 0 0 0 0 0 0 0 1
RIT1 0 0 0 1 0 0 0 0 0 0 1
RNF31 0 0 1 0 0 0 0 0 0 0 1
RNU7-1 1 0 0 0 0 0 0 0 0 0 1
SCNN1A, TNFRSF1A 0 0 0 1 0 0 0 0 0 0 1
SLC22A4 0 0 0 0 0 0 0 0 1 0 1
SLC39A13 0 0 1 0 0 0 0 0 0 0 1
SUPT20H 0 0 0 0 0 0 0 0 1 0 1
TGFB1 1 0 0 0 0 0 0 0 0 0 1
TNF 0 0 0 0 0 0 0 0 1 0 1
TRAF3IP2 1 0 0 0 0 0 0 0 0 0 1
TREX1 0 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 195
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association likely risk allele risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 555 148 8256 7223 880 0 4 0 0 0 17066
Illumina Laboratory Services, Illumina 14 7 1054 210 681 0 0 0 0 0 1941
Genome Diagnostics Laboratory, The Hospital for Sick Children 36 55 892 305 192 0 0 0 0 0 1480
Fulgent Genetics, Fulgent Genetics 33 27 508 264 16 0 0 0 0 0 847
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 0 0 0 0 514 514
Genome-Nilou Lab 5 7 196 185 159 0 0 0 0 0 382
OMIM 325 0 4 0 0 0 0 0 17 0 345
Natera, Inc. 13 2 196 44 21 0 0 0 0 0 276
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 68 82 68 0 0 0 0 0 220
Mendelics 21 11 95 6 12 0 0 0 0 0 145
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 8 2 118 6 1 0 0 0 0 0 134
Baylor Genetics 39 11 85 0 0 0 0 0 0 0 132
Revvity Omics, Revvity 8 10 73 2 0 0 0 0 0 0 93
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 38 37 2 1 10 0 0 0 0 0 88
GeneReviews 6 0 0 0 0 0 0 0 0 74 80
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 9 18 30 2 0 0 0 0 0 0 59
Neuberg Centre For Genomic Medicine, NCGM 6 11 40 0 0 0 0 0 0 0 56
3billion 17 19 9 5 0 0 0 0 0 0 50
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 25 8 16 0 0 0 0 0 0 0 49
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 8 7 25 0 0 0 0 0 0 0 40
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 1 19 12 0 0 0 0 0 0 34
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 11 1 14 5 2 0 0 0 0 0 33
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 7 2 18 0 1 2 0 0 30
MGZ Medical Genetics Center 5 11 13 0 0 0 0 0 0 0 29
New York Genome Center 3 2 24 0 0 0 0 0 0 0 29
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 14 7 5 0 0 0 0 0 0 0 26
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 6 14 0 0 0 0 0 0 0 25
Institute of Human Genetics, University of Leipzig Medical Center 6 7 9 1 0 0 0 0 0 0 23
Genetics and Molecular Pathology, SA Pathology 2 3 8 8 1 0 0 0 0 0 22
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 4 9 2 0 0 0 0 0 0 20
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 7 9 4 0 0 0 0 0 0 0 20
Johns Hopkins Genomics, Johns Hopkins University 7 3 10 0 0 0 0 0 0 0 20
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 20 20
Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine 19 0 0 0 0 0 0 0 0 0 19
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 9 8 0 0 0 0 0 18
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 14 2 0 0 0 0 0 0 0 0 16
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 12 3 0 0 0 0 0 16
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 8 7 0 0 0 0 0 0 0 0 15
Department of Human Genetics, Hannover Medical School 3 1 11 0 0 0 0 0 0 0 15
Centogene AG - the Rare Disease Company 5 6 3 0 0 0 0 0 0 0 14
Undiagnosed Diseases Network, NIH 6 0 8 0 0 0 0 0 0 0 14
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 9 5 1 0 0 0 0 0 0 0 14
Medical Biology Lab, Gaziantep University 0 0 0 0 0 0 0 0 0 13 13
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 12 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 4 7 0 0 0 0 0 12
Carola Vinuesa Lab, John Curtin School of Medical Research 5 0 0 0 7 0 0 0 0 0 12
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 2 1 0 0 0 0 0 0 0 11
Genomics England Pilot Project, Genomics England 3 8 0 0 0 0 0 0 0 0 11
Counsyl 2 3 3 1 1 0 0 0 0 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 8 1 1 0 0 0 0 0 0 0 10
Yale Center for Mendelian Genomics, Yale University 9 0 0 0 0 0 0 0 0 0 9
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 4 0 0 0 0 0 0 0 0 9
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 1 6 0 0 0 0 0 0 0 9
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1 2 5 0 1 0 0 0 0 0 9
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 8 0 0 0 0 0 0 0 0 8
Klein lab, Ludwig-Maximilians-University 8 0 0 0 0 0 0 0 0 0 8
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 4 2 2 0 0 0 0 0 0 0 8
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 0 0 8 0 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 3 2 0 0 0 0 0 0 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 1 0 0 0 0 0 0 0 0 7
Mayo Clinic Laboratories, Mayo Clinic 0 1 5 0 0 0 0 0 0 0 6
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 4 0 0 0 0 0 0 0 6
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 3 3 0 0 0 0 0 0 0 0 6
Suma Genomics 3 3 0 0 0 0 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 2 1 3 0 0 0 0 0 0 0 6
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 2 1 0 0 0 0 0 0 0 5
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 2 0 1 0 0 0 0 0 5
Myriad Genetics, Inc. 4 1 0 0 0 0 0 0 0 0 5
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 4 0 0 0 0 0 0 0 0 0 4
Medical Genetics of Dicle University 0 0 0 0 0 0 0 0 0 4 4
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 2 2 0 0 0 0 0 0 4
Hadassah Hebrew University Medical Center 3 1 0 0 0 0 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 2 0 0 0 0 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 3 0 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 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 3 0 0 0 0 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 4 0 0 0 0 0 0 0 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 2 0 0 0 0 0 0 0 4
Genomics Facility, Ludwig-Maximilians-Universität München 1 3 0 0 0 0 0 0 0 0 4
Lifecell International Pvt. Ltd 3 1 0 0 0 0 0 0 0 0 4
DASA 4 0 0 0 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 0 0 4
Institute of Neurology, Charite University of Medicine 0 1 0 3 0 0 0 0 0 0 4
Breakthrough Genomics, Breakthrough Genomics 2 2 0 0 0 0 0 0 0 0 4
MVZ Medizinische Genetik Mainz 0 1 3 0 0 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 0 0 3
Inflammatory Disease Section/Clinical Genetics Service, National Human Genome Research Institute 3 0 0 0 0 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 1 2 0 0 0 0 0 0 0 0 3
Atomic Energy Commission of Syria (AECS) 0 0 0 3 0 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 0 0 0 0 0 0 0 0 0 3
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 3 0 0 0 0 0 0 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 2 0 0 0 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 0 0 0 0 3
Clinical Bioinformatic Lab, Royan Institute 1 2 0 0 0 0 0 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 1 0 0 0 0 0 0 0 3
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 2 0 0 0 0 0 0 0 3
Breda Genetics srl 0 1 1 1 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 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 2 0 0 0 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 0 2 1 0 0 0 0 0 0 0 3
Institute of Biochemistry and Biotechnology, Faculty of Life Sciences, University of the Punjab 3 0 0 0 0 0 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 1 0 0 0 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 2 0 0 0 0 0 0 0 3
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 2 0 0 0 0 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 0 0 0 0 3
Genomics And Bioinformatics Analysis Resource, Columbia University 2 1 0 0 0 0 0 0 0 0 3
Dr.Nikuei Genetic Center 0 0 0 1 2 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 1 0 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 1 0 0 0 0 0 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 1 0 0 0 0 0 0 0 2
Department of Zoology, University of the Punjab, Lahore 0 0 0 0 0 0 2 0 0 0 2
Metabolic Disease laboratory, Sheba Medical Center 2 0 0 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 0 0 2
Kids Research, The Children's Hospital at Westmead 2 0 0 0 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 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 0 0 0 0 2
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 2 0 0 0 0 0 0 0 0 0 2
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 1 1 0 0 0 0 0 0 0 0 2
Experimental and Health Sciences Department, Universitat Pompeu Fabra 0 0 2 0 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 0 0 2
Vinuesa Lab, Australian National University 0 0 0 0 0 0 2 0 0 0 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 2 0 0 0 0 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 0 0 0 0 2
Immunogenetics of Pediatric Autoimmune Diseases, Institut Imagine 0 2 0 0 0 0 0 0 0 0 2
Servicio de Inmunologia, Hospital Universitario Virgen del Rocio 2 0 0 0 0 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 0 2 2
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 2 0 0 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 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 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 0 0 0 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 0 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 1 0 0 0 0 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 0 0 0 0 1
SNPedia 1 0 0 0 0 0 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 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 0 0 1
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut 1 0 0 0 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 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 0 0 0 0 1
Center for Human Genetics, University of Leuven 1 0 0 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 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 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 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 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 1 0 0 0 0 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 0 0 0 1
GenHotel - European Research Laboratory for Rheumatoid Arthritis, University of Paris Saclay 0 0 0 0 0 0 0 0 1 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 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 0 0 1
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 1 0 0 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 0 0 1
Division of Neonatology, National Center for Child Health and Development 1 0 0 0 0 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 1 0 0 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 0 0 1
Neurology Institute, Anhui University of Chinese Medicine 1 0 0 0 0 0 0 0 0 0 1
Tan Tock Seng Hospital, National Healthcare Group 1 0 0 0 0 0 0 0 0 0 1
GenomeConnect - CureCADASIL 0 0 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 0 0 1
Centro Nacional de Biotecnologia, Consejo Superior de Investigaciones Cientificas 0 0 0 0 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 0 0 0 0 1
Molecular Medicine, University of Pavia 0 1 0 0 0 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 0 0 0 1
Heon Lab, The Hospital for Sick Children 0 1 0 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 0 0 1
Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics 0 1 0 0 0 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 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 0 0 1
Dept of laboratory medicine, Chungbuk National University Hospital 0 1 0 0 0 0 0 0 0 0 1
Healthincode, Healthincode group 0 0 1 0 0 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 0 0 1
Arcensus 1 0 0 0 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 0 0 0 1
UAEU Genomics Laboratory, United Arab Emirates University 1 0 0 0 0 0 0 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 0 0 0 0 1
Children's Rare Disease Laboratory, Dongguan Children's Hospital 0 1 0 0 0 0 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 1 0 0 0 0 0 0 0 0 0 1

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