ClinVar Miner

Variants studied for childhood-onset epilepsy syndrome

Included ClinVar conditions (92):
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 affects association risk factor not provided total
1263 633 9951 8899 1333 2 1 5 198 21547

Gene and significance breakdown #

Total genes and gene combinations: 169
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
RELN 40 15 1012 1040 152 0 0 0 7 2204
DEPDC5 239 81 869 633 62 0 0 0 66 1881
KCNT1 34 17 737 990 120 0 0 0 5 1843
GRIN2A 133 135 646 714 169 0 0 0 10 1692
CHD2 184 78 620 685 81 0 0 0 4 1618
KCNMA1 12 10 488 510 38 0 0 0 4 1018
SLC6A1 71 54 222 307 78 0 0 0 17 714
CHRNA4 3 2 313 356 48 0 0 0 4 701
HBA-LCR, NPRL3 75 32 317 220 29 0 0 0 2 663
CHRNA2 2 1 335 260 65 0 0 0 3 639
GABRG2 74 35 248 169 25 0 0 0 0 524
RELN, SLC26A5 7 1 224 235 25 0 0 0 1 473
LMNB2 1 0 212 221 39 0 0 0 0 469
DNM1 13 11 156 246 41 0 0 0 0 463
CHRNB2 4 3 242 201 18 0 0 0 3 461
PRICKLE1 5 0 251 129 15 0 0 0 2 394
SCARB2 26 9 183 165 12 0 0 0 17 388
LGI1 36 13 194 137 10 0 0 0 6 386
KCNC1 4 10 189 171 14 0 0 0 0 384
EFHC1 2 0 237 107 32 0 1 5 1 360
PRDM8 1 0 187 123 13 0 0 0 0 324
KCTD7 23 22 173 97 21 2 0 0 0 316
NHLRC1 27 10 184 88 16 0 0 0 5 316
SERPINI1 6 0 185 105 23 0 0 0 0 313
CERS1, GDF1 3 1 130 135 9 0 0 0 0 276
EPM2A 23 5 99 62 7 0 0 0 2 193
GOSR2, LRRC37A2 8 2 109 66 12 0 0 0 0 191
EPM2A, EPM2A-DT, LOC129997381 14 6 82 59 3 0 0 0 2 160
PRICKLE2 1 0 116 12 25 0 0 0 0 153
PRIMA1 2 0 63 64 6 0 0 0 0 135
NPRL3 29 6 74 19 1 0 0 0 0 128
DNM1, LOC113839516 2 8 37 45 8 0 0 0 0 99
CSTB 9 4 51 32 4 0 0 0 11 98
CACNB4 0 0 41 45 12 0 0 0 0 97
LOC126860130, RELN, SLC26A5 2 1 37 50 7 0 0 0 1 95
SRPX2 2 1 53 29 10 0 0 0 0 91
GOSR2, LOC126862578, LRRC37A2 8 3 46 20 4 0 0 0 0 78
LOC126861509, PRICKLE1 0 0 50 23 2 0 0 0 1 75
KCTD7, LOC129998533 2 0 40 24 2 0 0 0 1 68
CHRNA4, LOC126863087 0 0 24 38 4 0 0 0 2 64
CHRNA4, LOC100130587 0 0 25 33 6 0 0 0 0 60
GAL 1 0 35 13 5 0 0 0 0 54
LOC126860131, RELN 0 0 17 33 5 0 0 0 0 54
SCN3A 7 1 34 4 9 0 0 0 1 54
GABRB3 10 13 20 4 1 0 0 0 2 50
LOC126807094, PRDM8 0 0 26 18 1 0 0 0 0 45
CHD2, LOC126862230 5 0 13 24 1 0 0 0 0 43
CPA6 3 0 37 1 2 0 0 0 0 42
CSTB, LOC130066788 2 3 20 15 2 0 0 0 2 39
CIZ1, DNM1 2 3 14 14 3 0 0 0 0 35
ARFGEF1-DT, CPA6 1 0 27 5 1 0 0 0 0 33
NPRL2 6 9 19 0 0 0 0 0 1 32
DNM1, LOC130002698 2 1 10 15 2 0 0 0 0 30
LOC129992745, PRDM8 0 0 16 9 1 0 0 0 0 26
LMNB2, LOC130063066 0 0 14 9 2 0 0 0 0 25
TBC1D24 7 2 12 3 1 0 0 0 1 25
CLN8 1 4 14 4 2 0 0 0 1 24
DNM1, LOC130002699 1 0 11 9 3 0 0 0 0 24
GABRA6 0 0 3 7 11 0 0 0 0 21
CHRNB2, LOC129931511 0 0 13 6 0 0 0 0 0 19
SEMA6B 3 5 5 2 5 0 0 0 0 19
LOC129992744, PRDM8 0 0 9 7 2 0 0 0 0 18
LMNB2, LOC130063065 0 0 3 10 1 0 0 0 0 14
LOC130007700, PRICKLE1 1 1 7 3 0 0 0 0 1 11
SZT2 11 0 0 0 0 0 0 0 0 11
LMNB2, MIR7108 0 0 1 8 1 0 0 0 0 10
GABRA1 0 2 6 0 0 0 0 0 0 8
SPTAN1 7 0 1 0 0 0 0 0 0 8
MICAL1 1 2 2 2 0 0 0 0 0 7
CACNB4, LOC129934925 0 0 1 4 1 0 0 0 0 6
CHRNA4, KCNQ2 0 0 6 0 0 0 0 0 0 6
CNTNAP2 6 0 0 0 0 0 0 0 0 6
KCNQ3 4 0 0 0 0 0 0 0 1 5
LOC122965327, PRICKLE2 0 0 4 0 1 0 0 0 0 5
SCN1A, SCN9A 5 0 0 0 0 0 0 0 0 5
SCN2A 2 0 1 0 0 0 0 0 2 5
DNM1, LOC130002697 0 0 0 4 0 0 0 0 0 4
KCNQ2 1 0 1 0 0 0 0 0 2 4
NPR2, SPAG8 0 3 1 0 0 0 0 0 0 4
PDCD10, SERPINI1 0 0 2 1 1 0 0 0 0 4
ASAH1 3 0 0 0 0 0 0 0 0 3
RBFOX1 3 0 0 0 0 0 0 0 0 3
SPAG1 3 0 0 0 0 0 0 0 0 3
STRADA 3 0 0 0 0 0 0 0 0 3
AGPAT3, CSTB, GATD3, HSF2BP, PDXK, PWP2, RRP1, RRP1B, SIK1, TRAPPC10 1 0 1 0 0 0 0 0 0 2
CACNA1G 0 0 0 0 0 0 0 0 2 2
CHRNA4, EEF1A2, KCNQ2, PPDPF 0 0 2 0 0 0 0 0 0 2
CRH 0 0 0 0 0 0 0 0 2 2
CSTB, LOC109029533, LOC130066788 2 0 0 0 0 0 0 0 0 2
DNAJC2, PMPCB, PSMC2, RELN, SLC26A5 1 0 1 0 0 0 0 0 0 2
GOSR2 1 0 1 0 0 0 0 0 0 2
GOSR2, WNT3, WNT9B 1 0 1 0 0 0 0 0 0 2
GRIN2B 0 0 1 0 0 0 0 0 1 2
LOC102724058, SCN1A 1 0 0 0 0 0 0 0 1 2
SCN1B 1 0 1 0 0 0 0 0 0 2
SLC2A1 2 0 0 0 0 0 0 0 0 2
WWOX 2 0 0 0 0 0 0 0 0 2
ABAT, ATF7IP2, CARHSP1, CIITA, CLEC16A, DEXI, EMP2, GRIN2A, HAPSTR1, LITAF, NUBP1, PMM2, PRM1, PRM2, PRM3, RMI2, SOCS1, TEKT5, TMEM186, TNP2, TVP23A, USP7 0 0 1 0 0 0 0 0 0 1
ABAT, CARHSP1, GRIN2A, HAPSTR1, PMM2, TMEM186, USP7 0 0 1 0 0 0 0 0 0 1
ABCA2, ABO, ADAMTS13, ADAMTSL2, AGPAT2, AJM1, AK8, BARHL1, BRD3, C8G, C9orf163, CACFD1, CAMSAP1, CARD9, CCDC183, CEL, CFAP77, CLIC3, COL5A1, DBH, DDX31, DIPK1B, DNLZ, DPP7, EDF1, EGFL7, ENTPD2, ENTR1, FAM163B, FBXW5, FCN1, FCN2, FUT7, GBGT1, GFI1B, GLT6D1, GPSM1, GRIN1, GTF3C4, GTF3C5, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02907, LINC02908, MAMDC4, MAN1B1, MED22, MIR126, MRPS2, MYMK, NACC2, NOTCH1, NPDC1, OBP2A, OBP2B, OLFM1, PAEP, PAXX, PHPT1, PIERCE1, PMPCA, PPP1R26, PTGDS, QSOX2, RABL6, RALGDS, REXO4, RNU6ATAC, RPL7A, RXRA, SAPCD2, SARDH, SEC16A, SETX, SLC2A6, SNAPC4, SNHG7, SOHLH1, SPACA9, STKLD1, SURF1, SURF2, SURF4, SURF6, TMEM141, TMEM250, TRAF2, TSC1, TTF1, UAP1L1, UBAC1, VAV2, WDR5 0 0 1 0 0 0 0 0 0 1
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CAMSAP1, CARD9, CCDC183, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FBXW5, FUT7, GLT6D1, GPSM1, GRIN1, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, MRPS2, NACC2, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, OBP2A, PAEP, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, QSOX2, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SOHLH1, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TMEM250, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, UBAC1, ZMYND19 0 0 1 0 0 0 0 0 0 1
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CAMSAP1, CARD9, CCDC183, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FBXW5, FUT7, GPSM1, GRIN1, INPP5E, KCNT1, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LHX3, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, NACC2, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, QSOX2, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TMEM250, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, UBAC1, ZMYND19 0 0 1 0 0 0 0 0 0 1
ABCA2, AGPAT2, AJM1, C8G, C9orf163, CAMSAP1, CARD9, CCDC183, CLIC3, DIPK1B, DNLZ, DPP7, EDF1, EGFL7, ENTPD2, ENTR1, FBXW5, FUT7, GPSM1, GRIN1, INPP5E, KCNT1, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LHX3, LINC02908, MAMDC4, MAN1B1, MIR126, NACC2, NOTCH1, NPDC1, PAXX, PHPT1, PMPCA, PTGDS, QSOX2, RABL6, SAPCD2, SEC16A, SNAPC4, SNHG7, TMEM141, TMEM250, TRAF2, UAP1L1, UBAC1 0 0 1 0 0 0 0 0 0 1
ABCG1, ADARB1, AGPAT3, AIRE, C21orf58, C2CD2, CBS, CFAP410, COL18A1, COL6A1, COL6A2, CRYAA, CSTB, DNMT3L, FTCD, GATD3, HSF2BP, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LINC00163, LINC00315, LINC00334, LRRC3, LSS, MCM3AP, NDUFV3, PCBP3, PCNT, PDE9A, PDXK, PFKL, PKNOX1, POFUT2, PRDM15, PTTG1IP, PWP2, RIPK4, RRP1, RRP1B, RSPH1, SIK1, SLC19A1, SLC37A1, SLX9, SPATC1L, SUMO3, TFF1, TFF2, TFF3, TMPRSS3, TRAPPC10, TRPM2, TSPEAR, U2AF1, UBASH3A, UBE2G2, UMODL1, WDR4, YBEY, ZBTB21 1 0 0 0 0 0 0 0 0 1
ABHD16B, ARFRP1, CHRNA4, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, PPDPF, PTK6, RTEL1, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, ZBTB46, ZGPAT 0 0 1 0 0 0 0 0 0 1
ABHD17A, ADAMTSL5, ADAT3, AMH, AP3D1, APC2, ATP8B3, BTBD2, C19orf25, CSNK1G2, DOT1L, IZUMO4, JSRP1, KLF16, LINGO3, LMNB2, LSM7, MBD3, MEX3D, MIR1909, MKNK2, MOB3A, OAZ1, ONECUT3, PCSK4, PEAK3, PLEKHJ1, PLK5, REEP6, REXO1, SCAMP4, SF3A2, SPPL2B, TCF3, TIMM13, TMPRSS9, UQCR11 0 0 1 0 0 0 0 0 0 1
AK1, ANGPTL2, BBLN, CDK9, CFAP157, CIZ1, DNM1, DPM2, EEIG1, ENG, FPGS, GARNL3, LCN2, LMX1B, LRSAM1, MIR199B, MIR2861, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, RALGPS1, RPL12, SH2D3C, SLC25A25, SLC2A8, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16, ZBTB34, ZBTB43, ZNF79 0 0 1 0 0 0 0 0 0 1
ANO4 0 1 0 0 0 0 0 0 0 1
ANTXR2, PRDM8 0 0 1 0 0 0 0 0 0 1
APP 0 0 1 0 0 0 0 0 0 1
ARFGAP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, EEF1A2, GID8, HAR1A, HAR1B, KCNQ2, NKAIN4, SLC17A9, TCFL5, YTHDF1 0 0 1 0 0 0 0 0 0 1
ARL13A, BTK, CENPI, CSTF2, DRP2, GLA, NOX1, RPL36A, RPL36A-HNRNPH2, SRPX2, SYTL4, TAF7L, TIMM8A, TMEM35A, TRMT2B, XKRX 0 0 1 0 0 0 0 0 0 1
ARMC6, BORCS8, CERS1, COMP, COPE, DDX49, GDF1, HOMER3, MEF2B, NR2C2AP, RFXANK, SLC25A42, SUGP2, TMEM161A, UPF1 0 0 1 0 0 0 0 0 0 1
ART3, CCDC158, CDKL2, CXCL10, CXCL11, CXCL9, FAM47E, FAM47E-STBD1, G3BP2, NAAA, NUP54, ODAPH, PPEF2, SCARB2, SDAD1, SHROOM3, STBD1, USO1 1 0 0 0 0 0 0 0 0 1
ATP2B2, BRK1, FANCD2, FANCD2OS, GHRL, GHRLOS, IRAK2, SEC13, SLC6A1, SLC6A11, TATDN2, VHL 1 0 0 0 0 0 0 0 0 1
C9orf163, CAMSAP1, CARD9, DNLZ, ENTR1, GPSM1, INPP5E, KCNT1, LHX3, NACC2, NOTCH1, PMPCA, QSOX2, SEC16A, SNAPC4, TMEM250, UBAC1 0 0 1 0 0 0 0 0 0 1
CAPRIN1 1 0 0 0 0 0 0 0 0 1
CCDC25, CHRNA2, CLU, ELP3, EPHX2, ESCO2, EXTL3, FBXO16, FZD3, NUGGC, PBK, PNOC, SCARA3, SCARA5, ZNF395 0 0 1 0 0 0 0 0 0 1
CEP55, FFAR4, FRA10AC1, LGI1, MYOF, PDE6C, RBP4 1 0 0 0 0 0 0 0 0 1
CHRNA1 0 0 1 0 0 0 0 0 0 1
CIZ1, DNM1, MIR199B 0 0 1 0 0 0 0 0 0 1
CLCN2 0 0 1 0 0 0 0 0 0 1
CLCNKB, LOC106501713 1 0 0 0 0 0 0 0 0 1
CLN3 0 0 1 0 0 0 0 0 0 1
CRH, LOC130000523 0 0 0 0 0 0 0 0 1 1
CSRP3, GTF2H1, HPS5, IGSF22, KCNC1, LDHA, LDHAL6A, LDHC, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MYOD1, OTOG, PTPN5, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SERGEF, SPTY2D1, TMEM86A, TPH1, TSG101, UEVLD, USH1C, ZDHHC13 0 0 1 0 0 0 0 0 0 1
CSTB, HSF2BP, PDXK, RRP1B, SIK1 0 0 1 0 0 0 0 0 0 1
DEPDC5, LOC125446219 0 0 1 0 0 0 0 0 0 1
DEPDC5, LOC125446219, LOC126863124, LOC130067262 1 0 0 0 0 0 0 0 0 1
DEPDC5, LOC130067262 1 0 0 0 0 0 0 0 0 1
DEPDC5, PRR14L 0 1 0 0 0 0 0 0 0 1
DEPDC5, RFPL2 0 1 0 0 0 0 0 0 0 1
DLG5, KCNMA1 0 0 1 0 0 0 0 0 0 1
DNM1, MIR199B, MIR3154 0 0 1 0 0 0 0 0 0 1
GATM 0 0 1 0 0 0 0 0 0 1
GRIN1 1 0 0 0 0 0 0 0 0 1
GRIN2A, LOC130058418 0 1 0 0 0 0 0 0 0 1
IER3IP1 1 0 0 0 0 0 0 0 0 1
ITSN2 0 0 1 0 0 0 0 0 0 1
KAT6B 1 0 0 0 0 0 0 0 0 1
KCNA1 0 1 0 0 0 0 0 0 0 1
KCNH8 0 1 0 0 0 0 0 0 0 1
KCNT1, SOHLH1 0 0 1 0 0 0 0 0 0 1
KCTD7, LOC129998533, LOC129998534, LOC129998535 0 0 1 0 0 0 0 0 0 1
LOC102724428 1 0 0 0 0 0 0 0 0 1
LOC121627976, LOC125467769, SRPX2 0 0 1 0 0 0 0 0 0 1
LOC126805704, SNIP1 1 0 0 0 0 0 0 0 0 1
LOC126861509, LOC130007700, LOC130007701, PRICKLE1 0 0 1 0 0 0 0 0 0 1
LOC126862279, RBFOX1 1 0 0 0 0 0 0 0 0 1
LOC129390441, LOC130007703, LOC130007704, LOC130007705, LOC130007706, LOC130007707, PRICKLE1 0 1 0 0 0 0 0 0 0 1
LOC129937857, PDCD10, SERPINI1 0 0 0 0 1 0 0 0 0 1
LOC129992690, SCARB2 0 0 1 0 0 0 0 0 0 1
LOC129992692, LOC129992693, SCARB2 0 0 1 0 0 0 0 0 0 1
MAF, WWOX 1 0 0 0 0 0 0 0 0 1
MAPK10 0 0 1 0 0 0 0 0 0 1
NEXMIF 1 0 0 0 0 0 0 0 0 1
NHLRC1, TPMT 1 0 0 0 0 0 0 0 0 1
NPR2 0 1 0 0 0 0 0 0 0 1
OPLAH 0 0 1 0 0 0 0 0 0 1
PCDH19 1 0 0 0 0 0 0 0 0 1
PLCB1 1 0 0 0 0 0 0 0 0 1
POLG, POLGARF 0 0 1 0 0 0 0 0 0 1
PRMT7, SLC7A6OS 1 0 0 0 0 0 0 0 0 1
RBFOX3 1 0 0 0 0 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 0 1 0 0 0 0 0 0 0 1
SCN1A 1 0 0 0 0 0 0 0 0 1
SLC7A6OS 0 0 1 0 0 0 0 0 0 1
TUBA1A 1 0 0 0 0 0 0 0 0 1
ZEB2 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 162
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
Invitae 926 251 8571 8624 1030 0 0 0 0 19402
Illumina Laboratory Services, Illumina 4 0 818 167 304 0 0 0 0 1292
Genome-Nilou Lab 0 0 64 172 133 0 0 0 0 369
Fulgent Genetics, Fulgent Genetics 14 6 221 93 9 0 0 0 0 343
Institute of Human Genetics, University of Leipzig Medical Center 27 125 64 8 0 0 0 0 0 224
OMIM 169 0 3 0 0 0 0 5 0 177
Revvity Omics, Revvity 17 11 130 3 0 0 0 0 0 161
GeneReviews 5 0 0 0 0 0 0 0 140 145
Baylor Genetics 14 12 93 0 0 0 0 0 0 119
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 111 0 0 0 0 0 0 0 0 111
New York Genome Center 2 8 98 0 0 0 0 0 0 108
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 1 54 9 0 0 0 0 0 68
Mendelics 16 20 14 11 3 0 0 0 0 64
Génétique des Maladies du Développement, Hospices Civils de Lyon 26 21 11 1 0 0 0 0 0 59
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 45 1 1 0 0 0 0 51
Neuberg Centre For Genomic Medicine, NCGM 5 7 35 0 0 0 0 0 0 47
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 7 30 2 0 0 0 0 0 43
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 4 15 1 0 0 0 0 0 36
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 36 36
3billion 6 10 9 0 0 0 0 0 0 25
MGZ Medical Genetics Center 1 11 10 1 0 0 0 0 0 23
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 7 9 0 0 0 0 0 0 0 16
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 4 4 7 0 0 0 0 0 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 6 7 0 0 0 0 15
Athena Diagnostics Inc 0 0 0 0 14 0 0 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 6 0 0 0 0 0 0 0 14
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 10 0 0 0 0 0 0 14
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 14 14
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 5 3 3 0 0 0 0 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 7 4 0 0 0 0 12
Centogene AG - the Rare Disease Company 0 2 10 0 0 0 0 0 0 12
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 7 4 0 0 0 0 0 0 12
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 2 1 7 0 0 0 0 0 0 10
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 3 2 0 0 0 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 5 0 0 0 0 0 0 0 9
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 5 0 0 0 0 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 6 0 0 0 0 0 0 9
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 6 0 0 0 0 0 0 8
Genetics and Molecular Pathology, SA Pathology 3 1 4 0 0 0 0 0 0 8
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 7 0 0 0 0 0 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 8 8
Center of Genomic medicine, Geneva, University Hospital of Geneva 4 0 3 0 0 0 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 2 1 0 0 0 0 0 0 7
Undiagnosed Diseases Network, NIH 3 3 1 0 0 0 0 0 0 7
Mayo Clinic Laboratories, Mayo Clinic 1 0 5 0 0 0 0 0 0 6
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 5 0 0 0 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 3 1 0 0 0 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 6 0 0 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 2 2 0 1 0 0 0 0 6
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 3 2 0 0 0 0 0 6
Department of Laboratory Medicine, Yonsei University College of Medicine 0 6 0 0 0 0 0 0 0 6
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 2 4 0 0 0 0 0 0 6
DASA 3 3 0 0 0 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 4 0 1 0 0 0 0 0 0 5
Duke University Health System Sequencing Clinic, Duke University Health System 1 4 0 0 0 0 0 0 0 5
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 4 0 0 0 0 0 0 5
Cavalleri Lab, Royal College of Surgeons in Ireland 3 1 1 0 0 0 0 0 0 5
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 3 1 1 0 0 0 0 0 0 5
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 2 1 0 0 0 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 2 2 0 0 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 1 0 0 0 0 0 0 4
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 4 0 0 0 0 0 0 0 4
Neurogenetics Laboratory - MEYER, AOU Meyer 0 1 3 0 0 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 1 0 0 0 0 0 0 4
Laboratory of Functional Genomics, Research Centre for Medical Genetics 2 2 0 0 0 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 1 0 0 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 3 0 0 0 0 0 0 0 4
Lifecell International Pvt. Ltd 2 2 0 0 0 0 0 0 0 4
Pediatrics, MediClubGeorgia 1 3 0 0 0 0 0 0 0 4
Human Genetics Bochum, Ruhr University Bochum 0 1 3 0 0 0 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 2 0 0 0 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 2 1 0 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 2 0 0 0 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 1 0 0 0 0 0 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 3 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 1 0 0 0 0 0 0 3
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 2 0 0 0 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 2 0 0 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 0 0 0 0 0 0 0 3
Breda Genetics srl 0 0 3 0 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 2 0 0 0 0 0 0 0 3
Center of Excellence for Medical Genomics, Chulalongkorn University 2 1 0 0 0 0 0 0 0 3
Pediatric Genetics Clinic, Sheba Medical Center 1 1 1 0 0 0 0 0 0 3
Wen Jiang Lab, Comprehensive Epilepsy Center, Xijing Hospital 0 3 0 0 0 0 0 0 0 3
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 3 0 0 0 0 0 0 3
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 0 0 0 3 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 0 0 0 0 0 0 2
Blueprint Genetics 0 2 0 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 1 0 0 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 0 0 0 2
Wangler Lab, Baylor College of Medicine 0 1 1 0 0 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 0 0 0 0 2
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 1 1 0 0 0 0 0 0 2
IRCCS Fondazione Stella Maris, University of Pisa 0 2 0 0 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 2 0 0 0 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 0 2 0 0 0 0 0 0 2
Fondazione Telethon, Telethon Institute of Genetics and Medicine 2 0 0 0 0 0 0 0 0 2
Cell and Molecular Biology Laboratory, University of the Punjab Lahore 0 0 1 0 0 0 1 0 0 2
Children’s Center Hospital, Tehran University of Medical Sciences 0 0 0 0 0 2 0 0 0 2
Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education 0 2 0 0 0 0 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 2 0 0 0 0 0 0 0 0 2
Bioinformatics Unit, Institut Pasteur de Montevideo 0 2 0 0 0 0 0 0 0 2
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 2 0 0 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 0 0 0 1
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 0 1 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 0 0 0 1
Institute of Experimental Medicine, Department of Genetics, Istanbul University 1 0 0 0 0 0 0 0 0 1
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN) 0 1 0 0 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 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 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 0 0 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 0 0 0 1
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 0 0 0 0 0 0 0 0 1
Division of Medical Genetics; Sainte-Justine Hospital 1 0 0 0 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 0 0 1
Fundacion Publica Galega de Medicina Xenomica, Servicio Galego de Saude 0 1 0 0 0 0 0 0 0 1
TIDEX, University of British Columbia 0 1 0 0 0 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 0 1 0 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 0 0 1
Ambulatório de Genética Médica, Hospital Escola da Universidade Federal de Pelotas 0 1 0 0 0 0 0 0 0 1
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 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 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 0 0 0 1
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 0 1 0 0 0 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 1 0 0 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 0 0 0 1
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital 0 1 0 0 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 0 0 1
Department of Neurology, Hunan Children's Hospital 1 0 0 0 0 0 0 0 0 1
Department of Neurology lab, Tongji Hospital, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology 1 0 0 0 0 0 0 0 0 1
Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg 1 0 0 0 0 0 0 0 0 1
Department of Neurodegenerative Diseases, AG Gasser, Hertie Institute for Clinical Brain Research 1 0 0 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 0 0 0 1
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 1 0 0 0 0 0 0 1
Department of Neurology, Children’s Hospital of Chongqing Medical University 0 0 1 0 0 0 0 0 0 1
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University 0 1 0 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 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 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 0 0 0 0 0 0 0 1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 0 1 0 0 0 0 0 0 0 1

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