ClinVar Miner

Variants studied for non-syndromic intellectual disability

Included ClinVar conditions (159):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
1312 874 3311 2436 929 82 8616

Gene and significance breakdown #

Total genes and gene combinations: 255
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HCFC1 6 1 115 672 255 0 1035
IQSEC2 105 34 316 362 126 2 918
ARX 28 11 171 266 21 1 493
VRK1 64 28 147 248 13 1 480
MEF2C 54 33 101 157 27 3 363
MAN1B1 24 11 169 148 42 0 358
PGAP1 24 12 110 99 26 1 265
EXOSC3 28 13 65 104 10 2 204
RPS6KA3 27 10 40 60 50 0 185
DDX3X 83 70 24 4 1 16 174
ASH1L 21 20 114 6 5 6 170
BRWD3 12 12 89 8 50 0 169
HIVEP2 22 12 85 10 2 1 129
ARX, LOC109610631 10 1 44 61 8 1 123
CIC 16 15 81 8 0 0 120
PRSS12 1 2 90 11 10 2 113
TRAPPC9 22 12 59 4 11 2 107
TRIP12 33 16 53 1 5 2 107
ARID2 41 21 35 4 3 1 102
NSUN2 9 14 54 8 18 1 101
CLTC 23 17 30 19 4 1 90
CLCN4 14 16 50 4 0 0 81
NAA15 31 26 25 1 1 0 81
MED13 10 12 52 2 2 0 77
DLG4 47 24 16 0 1 3 76
USP9X 4 14 47 5 1 3 73
ZBTB18 22 28 17 2 0 4 67
TUSC3 8 5 24 21 8 0 64
TLK2 25 19 25 2 1 1 63
FRMPD4 5 10 41 3 2 0 60
TRIO 7 13 22 5 13 0 59
KDM5B 12 19 22 1 5 2 58
IL1RAPL1 7 8 26 1 16 0 57
STAG1 8 14 32 4 1 2 57
CC2D1A 3 5 42 3 3 1 56
ZNF711 5 3 30 2 13 3 55
PAK3 5 10 25 1 13 0 53
KMT5B 18 12 23 1 1 0 52
AFF2 4 2 36 3 5 0 50
CAMK2B 7 4 18 6 10 0 44
KCNQ5 9 7 28 1 0 0 44
FMN2 5 3 20 6 8 1 43
TBL1XR1 11 16 13 1 1 1 43
LINS1 5 16 21 1 0 0 41
ADK 2 3 23 5 8 0 40
CAMK2A 12 13 10 0 5 0 37
RAB39B 3 1 23 0 10 0 37
ACSL4 5 6 22 2 2 0 36
MBOAT7 8 11 20 0 0 0 35
OGT 7 4 24 0 0 1 35
RUSC2 4 1 24 4 2 0 34
DLG3 8 5 19 0 1 0 32
NUS1 14 8 9 0 1 0 32
HCFC1, LOC130068842 0 0 4 14 12 0 30
MED23 9 7 12 2 0 4 30
TRMT1 9 10 9 0 1 0 29
ELP2 8 7 14 0 0 3 27
NDST1 4 2 16 1 5 0 26
DLG4, LOC126862479 18 4 3 0 1 1 25
KIF4A 5 1 13 1 5 0 25
RLIM 7 5 13 1 0 0 24
SET 9 6 8 0 2 0 24
ALKBH8 6 4 9 1 5 0 23
DPP6 1 0 20 0 2 0 23
APC2 3 2 13 0 2 1 21
GDI1 7 4 7 2 1 0 21
PIDD1 10 3 8 2 0 0 21
METTL23 6 4 9 1 0 0 20
WASHC4 6 6 9 0 1 0 20
C1orf105, PIGC 4 4 10 0 2 0 17
CERT1 1 2 13 2 0 0 17
SLC9A7 1 1 13 0 3 0 17
ST3GAL3 6 1 6 2 3 0 17
SYN1 6 1 8 0 1 1 17
ZBTB11 11 0 5 0 1 0 17
AP2M1 1 1 6 2 7 0 16
LOC130003078, MAN1B1 0 0 6 9 1 0 16
SYP 4 1 11 0 0 0 16
USP27X 6 4 9 0 0 0 16
ASCC3 13 0 2 0 0 0 15
EXOSC3, LOC130001814 2 0 3 9 1 0 15
LOC130003079, MAN1B1 2 2 6 5 2 0 15
CAMK2G 1 4 5 0 5 0 14
STEEP1 3 2 7 0 2 0 14
TNIK 1 0 5 1 7 0 14
GRIK2 2 0 10 1 0 0 13
LINGO1 3 0 6 0 4 0 13
KLHL15 2 0 10 0 0 0 12
ARHGEF6 0 0 6 5 0 0 11
CRBN 3 1 4 0 3 0 11
EXOSC8 2 2 6 1 1 1 11
FTSJ1 5 0 5 0 0 1 11
LOC126806878, TBL1XR1 1 8 4 0 0 0 11
METTL5 4 4 4 0 0 0 11
CRADD 5 1 5 0 0 1 10
TAF4 5 2 2 1 0 0 10
ZC3H14 2 0 5 2 2 0 10
CEP104 3 0 3 3 0 0 9
CLTC, LOC126862609 0 3 3 2 1 0 9
DCPS 2 1 4 0 2 0 9
LMAN2L 1 1 7 0 0 0 9
LOC101928335, MID2 2 3 5 0 0 0 9
RSRC1 5 1 3 0 0 0 9
TSPAN7 3 0 2 2 2 2 9
POF1B, ZNF711 0 0 0 4 6 0 8
SLITRK2 6 0 2 0 0 0 8
ARID2, LOC130007728 3 1 2 1 0 0 7
EIF3F 1 3 2 0 2 0 7
FBXO31 2 1 4 0 0 1 7
HNMT 2 2 4 0 0 0 7
C12orf4 2 5 0 0 0 0 6
CLTC, LOC125177523 2 1 3 0 0 0 6
DCPS, GSEC 1 2 4 1 0 0 6
LOC130068032, RPS6KA3 0 0 2 3 1 0 6
ZNF81 0 0 6 0 0 0 6
CERT1, POLK 1 0 4 0 0 0 5
FERRY3 3 2 1 0 0 0 5
IMPA1 1 1 3 0 0 0 5
KCNQ5, KCNQ5-DT, LOC129996711 0 0 4 0 1 0 5
MID2 0 0 4 0 1 0 5
TAF13 2 1 1 0 1 0 5
ZMYM3 3 2 1 0 0 0 5
ADK, LOC102723439 1 1 0 1 2 0 4
CASP2 4 0 0 0 0 0 4
DCPS, TIRAP 1 1 1 0 1 0 4
KCNQ5, KCNQ5-DT 0 1 2 0 1 0 4
LOC126807323, TRIO 0 0 3 0 1 0 4
LOC126862611, TLK2 3 2 0 0 0 0 4
TECR 1 0 2 1 0 0 4
WDR11 4 0 0 0 0 0 4
ACADVL, DLG4 0 1 2 0 0 0 3
ARX, PCYT1B, PDK3, POLA1 1 0 2 0 0 0 3
CRBN, TRNT1 2 1 1 0 0 0 3
EDC3 2 0 1 0 0 0 3
EIF3F, LOC126861132 1 0 2 0 0 0 3
EXOSC8, LOC130009581 0 0 3 0 0 0 3
HUWE1 1 0 2 0 0 0 3
IQSEC2, SMC1A 0 0 2 1 0 0 3
LOC130068561, PAK3 0 0 2 0 1 0 3
LOC130068896, RAB39B 0 0 3 0 0 0 3
NSUN6 3 0 0 0 0 0 3
ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1 1 0 1 0 0 0 2
ANK3 0 0 2 0 0 0 2
ARHGEF6, LOC130068760 0 0 1 1 0 0 2
CIC, PAFAH1B3 0 1 1 0 0 0 2
GRIA1 1 0 0 0 0 1 2
HSD17B10, IQSEC2, RIBC1, SMC1A 0 0 2 0 0 0 2
NAA20 2 1 0 0 0 0 2
PTCHD1 1 1 0 0 0 0 2
SMARCA1 0 2 0 0 0 0 2
TPR 2 0 0 0 0 0 2
ZDHHC15 1 0 1 0 0 0 2
ZNF41 0 0 2 0 0 0 2
ZNF674 0 0 1 0 1 0 2
​intergenic 1 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 1
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CARD9, CCDC183, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FBXW5, FUT7, GPSM1, GRIN1, INPP5E, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LHX3, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, 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, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, ZMYND19 1 0 0 0 0 0 1
ACTN2, ADSS2, AHCTF1, AKT3, AKT3-IT1, ARID4B, B3GALNT2, BECN2, C1orf202, CATSPERE, CEP170, CHML, CHRM3, CNST, COX20, DESI2, EDARADD, EFCAB2, ERO1B, EXO1, FH, FMN2, GGPS1, GNG4, GPR137B, GREM2, HEATR1, HNRNPU, KIF26B, KMO, LGALS8, LINC01139, LINC01341, LINC01347, LINC01743, LINC02768, LINC02774, LOC100506929, LOC101928068, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC108004528, LOC110120698, LOC110121251, LOC110121264, LOC110121265, LOC110121266, LOC111828504, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC115804253, LOC120908922, LOC120908923, LOC120947224, LOC121725076, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC126264117, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC129388781, LOC129388782, LOC129388783, LOC129388784, LOC129388785, LOC129388786, LOC129388787, LOC129388788, LOC129388789, LOC129388790, LOC129388791, LOC129388792, LOC129388793, LOC129388794, LOC129388795, LOC129388796, LOC129388797, LOC129388798, LOC129388799, LOC129388800, LOC129388801, LOC129388802, LOC129388803, LOC129388804, LOC129388805, LOC129388806, LOC129388807, LOC129388808, LOC129388809, LOC129869688, LOC129929020, LOC129932845, LOC129932846, LOC129932847, LOC129932848, LOC129932849, LOC129932850, LOC129932851, LOC129932852, LOC129932853, LOC129932854, LOC129932855, LOC129932856, LOC129932857, LOC129932858, LOC129932859, LOC129932860, LOC129932861, LOC129932862, LOC129932863, LOC129932864, LOC129932865, LOC129932866, LOC129932867, LOC129932868, LOC129932869, LOC129932870, LOC129932871, LOC129932872, LOC129932873, LOC129932874, LOC129932875, LOC129932876, LOC129932877, LOC129932878, LOC129932879, LOC129932880, LOC129932881, LOC129932882, LOC129932883, LOC129932884, LOC129932885, LOC129932886, LOC129932887, LOC129932888, LOC129932889, LOC129932890, LOC129932891, LOC129932892, LOC129932893, LOC129932894, LOC129932895, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC129932901, LOC129932902, LOC129932903, LOC129932904, LOC129932905, LOC129932906, LOC129932907, LOC129932908, LOC129932909, LOC129932910, LOC129932911, LOC129932912, LOC129932913, LOC129932914, LOC129932915, LOC129932916, LOC129932917, LOC129932918, LOC129932919, LOC129932920, LOC129932921, LOC129932922, LOC129932923, LOC129932924, LOC129932925, LOC129932926, LOC129932927, LOC129932928, LOC129932929, LOC129932930, LOC129932931, LOC129932932, LOC129932933, LOC129932934, LOC129932935, LOC129932936, LOC129932937, LOC129932938, LOC129932939, LOC129932940, LOC129932941, LOC129932942, LOC129932943, LOC129932944, LOC129932945, LOC132088685, LOC132088686, LOC440742, LYST, MAP1LC3C, MIR1537, MIR3123, MIR4428, MIR4677, MT1HL1, MTR, NID1, OPN3, PLD5, RGS7, RYR2, SCCPDH, SDCCAG8, SMYD3, SMYD3-IT1, SNORA100, SPMIP3, TBCE, TFB2M, WDR64, ZBTB18, ZNF670-ZNF695, ZNF695, ZP4 1 0 0 0 0 0 1
ADGRV1, ARB2A, ARRDC3, CETN3, CRE1, LINC01339, LINC02060, LOC102724637, LOC105379082, LOC110120605, LOC110120640, LOC110120688, LOC110120699, LOC110120744, LOC110120771, LOC110120808, LOC110120815, LOC110120966, LOC110120971, LOC110120974, LOC110120977, LOC110120982, LOC110120991, LOC110121009, LOC110121012, LOC110121013, LOC110121035, LOC110121147, LOC121079950, LOC123497931, LOC123497932, LOC123497933, LOC123497934, LOC123497935, LOC123497936, LOC123497937, LOC123497938, LOC123497939, LOC126807447, LOC126807448, LOC126807449, LOC126807450, LOC126807451, LOC126807452, LOC128772265, LOC128772266, LOC128772267, LOC128772268, LOC128772269, LOC128772270, LOC128772271, LOC128772272, LOC128772273, LOC129389317, LOC129389318, LOC129389319, LOC129389320, LOC129389321, LOC129994175, LOC129994176, LOC129994177, LOC129994178, LOC129994179, LOC129994180, LOC129994181, LOC129994182, LOC129994183, LOC129994184, LOC129994185, LOC129994186, LOC129994187, LOC129994188, LOC129994189, LOC129994190, LOC129994191, LOC129994192, LOC129994193, LOC129994194, LOC129994195, LOC129994196, LOC129994197, LOC129994198, LOC129994199, LOC129994200, LOC129994201, LOC129994202, LOC129994203, LOC129994204, LOC129994205, LOC129994206, LOC129994207, LOC129994208, LOC129994209, LOC129994210, LOC129994211, LOC129994212, LOC129994213, LOC129994214, LOC129994215, LOC129994216, LOC731157, LUCAT1, LYSMD3, MBLAC2, MEF2C, MIR2277, MIR3660, MIR9-2, MIR9-2HG, NR2F1, POLR3G, POU5F2, TMEM161B, TMEM161B-DT 1 0 0 0 0 0 1
ADGRV1, ARRDC3, CETN3, LUCAT1, LYSMD3, MBLAC2, MEF2C, POLR3G 1 0 0 0 0 0 1
ADSS2, AHCTF1, AKT3, AKT3-IT1, BECN2, C1orf202, CATSPERE, CEP170, CHML, CHRM3, CNST, COX20, DESI2, EFCAB2, EXO1, FH, FLJ39095, FMN2, GCSAML, GREM2, HNRNPU, KIF26B, KMO, LINC01341, LINC01347, LINC01743, LINC02774, LINC02897, LOC100506929, LOC101928068, LOC102724446, LOC110120698, LOC110121251, LOC111828504, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120947224, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC129388792, LOC129388793, LOC129388794, LOC129388795, LOC129388796, LOC129388797, LOC129388798, LOC129388799, LOC129388800, LOC129388801, LOC129388802, LOC129388803, LOC129388804, LOC129388805, LOC129388806, LOC129388807, LOC129388808, LOC129388809, LOC129388810, LOC129388811, LOC129388812, LOC129388813, LOC129932887, LOC129932888, LOC129932889, LOC129932890, LOC129932891, LOC129932892, LOC129932893, LOC129932894, LOC129932895, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC129932901, LOC129932902, LOC129932903, LOC129932904, LOC129932905, LOC129932906, LOC129932907, LOC129932908, LOC129932909, LOC129932910, LOC129932911, LOC129932912, LOC129932913, LOC129932914, LOC129932915, LOC129932916, LOC129932917, LOC129932918, LOC129932919, LOC129932920, LOC129932921, LOC129932922, LOC129932923, LOC129932924, LOC129932925, LOC129932926, LOC129932927, LOC129932928, LOC129932929, LOC129932930, LOC129932931, LOC129932932, LOC129932933, LOC129932934, LOC129932935, LOC129932936, LOC129932937, LOC129932938, LOC129932939, LOC129932940, LOC129932941, LOC129932942, LOC129932943, LOC129932944, LOC129932945, LOC129932946, LOC129932947, LOC129932948, LOC129932949, LOC129932950, LOC129932951, LOC129932952, LOC129932953, LOC129932954, LOC129932955, LOC129932956, LOC129932957, LOC129932958, LOC129932959, LOC129932960, LOC129932961, LOC129932962, LOC129932963, LOC129932964, LOC129932965, LOC129932966, LOC129932967, LOC129932968, LOC129932969, LOC129932970, LOC129932971, LOC132088685, LOC132088686, LOC440742, LYPD8, MAP1LC3C, MIR3123, MIR3124, MIR3916, MIR4677, NLRP3, OPN3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1, OR1C1, OR2AJ1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PGBD2, PLD5, RGS7, SCCPDH, SDCCAG8, SH3BP5L, SMYD3, SMYD3-IT1, SNORA100, SPMIP3, TFB2M, TRE-CTC2-1, TRIM58, TRL-CAA4-1, VN1R5, WDR64, ZBTB18, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF692, ZNF692-DT, ZNF695 1 0 0 0 0 0 1
ADSS2, AHCTF1, AKT3, AKT3-IT1, C1orf202, CATSPERE, CEP170, CNST, COX20, DESI2, EFCAB2, FLJ39095, GCSAML, HNRNPU, KIF26B, LINC01341, LINC01743, LINC02774, LINC02897, LOC101928068, LOC102724446, LOC110120698, LOC110121251, LOC111828504, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC115804254, LOC115804255, LOC115804256, LOC120947224, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC129388800, LOC129388801, LOC129388802, LOC129388803, LOC129388804, LOC129388805, LOC129388806, LOC129388807, LOC129388808, LOC129388809, LOC129388810, LOC129388811, LOC129388812, LOC129388813, LOC129932892, LOC129932893, LOC129932894, LOC129932895, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC129932901, LOC129932902, LOC129932903, LOC129932904, LOC129932905, LOC129932906, LOC129932907, LOC129932908, LOC129932909, LOC129932910, LOC129932911, LOC129932912, LOC129932913, LOC129932914, LOC129932915, LOC129932916, LOC129932917, LOC129932918, LOC129932919, LOC129932920, LOC129932921, LOC129932922, LOC129932923, LOC129932924, LOC129932925, LOC129932926, LOC129932927, LOC129932928, LOC129932929, LOC129932930, LOC129932931, LOC129932932, LOC129932933, LOC129932934, LOC129932935, LOC129932936, LOC129932937, LOC129932938, LOC129932939, LOC129932940, LOC129932941, LOC129932942, LOC129932943, LOC129932944, LOC129932945, LOC129932946, LOC129932947, LOC129932948, LOC129932949, LOC129932950, LOC129932951, LOC129932952, LOC129932953, LOC129932954, LOC129932955, LOC129932956, LOC129932957, LOC129932958, LOC129932959, LOC129932960, LOC129932961, LOC129932962, LOC129932963, LOC129932964, LOC129932965, LOC129932966, LOC129932967, LOC129932968, LOC129932969, LOC129932970, LOC129932971, LOC440742, LYPD8, MIR3124, MIR3916, MIR4677, NLRP3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1, OR1C1, OR2AJ1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PGBD2, SCCPDH, SDCCAG8, SH3BP5L, SMYD3, SMYD3-IT1, SNORA100, SPMIP3, TFB2M, TRE-CTC2-1, TRIM58, TRL-CAA4-1, VN1R5, ZBTB18, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF692, ZNF692-DT, ZNF695 1 0 0 0 0 0 1
ADSS2, AHCTF1, AKT3, AKT3-IT1, C1orf202, CATSPERE, CEP170, CNST, COX20, DESI2, EFCAB2, HNRNPU, KIF26B, LINC01341, LINC01347, LINC01743, LINC02774, LOC101928068, LOC110120698, LOC110121251, LOC111828504, LOC112577566, LOC120947224, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC129388799, LOC129388800, LOC129388801, LOC129388802, LOC129388803, LOC129388804, LOC129388805, LOC129388806, LOC129388807, LOC129932892, LOC129932893, LOC129932894, LOC129932895, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC129932901, LOC129932902, LOC129932903, LOC129932904, LOC129932905, LOC129932906, LOC129932907, LOC129932908, LOC129932909, LOC129932910, LOC129932911, LOC129932912, LOC129932913, LOC129932914, LOC129932915, LOC129932916, LOC129932917, LOC129932918, LOC129932919, LOC129932920, LOC129932921, LOC129932922, LOC129932923, LOC129932924, LOC129932925, LOC129932926, LOC129932927, LOC129932928, LOC129932929, LOC129932930, LOC129932931, LOC129932932, LOC129932933, LOC129932934, LOC129932935, LOC129932936, LOC129932937, LOC129932938, LOC129932939, LOC129932940, LOC440742, MIR4677, PLD5, SCCPDH, SDCCAG8, SMYD3, SMYD3-IT1, SNORA100, SPMIP3, TFB2M, ZBTB18 1 0 0 0 0 0 1
ADSS2, AKT3, AKT3-IT1, C1orf202, CATSPERE, CEP170, COX20, DESI2, EFCAB2, HNRNPU, KIF26B, LINC01347, LINC02774, LOC101928068, LOC110120698, LOC111828504, LOC112577566, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC129388799, LOC129388800, LOC129388801, LOC129388802, LOC129932891, LOC129932892, LOC129932893, LOC129932894, LOC129932895, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC129932901, LOC129932902, LOC129932903, LOC129932904, LOC129932905, LOC129932906, LOC129932907, LOC129932908, LOC129932909, LOC129932910, LOC129932911, LOC129932912, LOC129932913, LOC129932914, LOC129932915, LOC129932916, LOC129932917, LOC129932918, LOC129932919, LOC129932920, LOC129932921, LOC129932922, LOC440742, MIR4677, PLD5, SDCCAG8, SNORA100, SPMIP3, ZBTB18 1 0 0 0 0 0 1
ADSS2, AKT3, CATSPERE, CEP170, SDCCAG8, SPMIP3, ZBTB18 1 0 0 0 0 0 1
AFF2, FRAXE 1 0 0 0 0 0 1
AGTR2 0 0 0 1 0 0 1
AMOTL2, ANAPC13, BFSP2, C3orf36, CDV3, CEP63, EPHB1, KY, MSL2, PCCB, PPP2R3A, RAB6B, RYK, SLCO2A1, SRPRB, STAG1, TF, TMEM108, TOPBP1 0 1 0 0 0 0 1
ANKH, ANKRD33B, ATPSCKMT, BASP1, CCT5, CMBL, CTNND2, DAP, DNAH5, FBXL7, LINC01194, MARCHF11, MARCHF6, MYO10, OTULIN, OTULIN-DT, OTULINL, RETREG1, ROPN1L, TRIO, ZNF622 1 0 0 0 0 0 1
AP2M1, LOC123453202 0 0 1 0 0 0 1
APC2, LOC130062956 0 0 1 0 0 0 1
ARG1, MED23 0 0 0 0 1 0 1
ARHGAP18, ASF1A, C6orf58, CALHM4, CALHM5, CALHM6, CENPW, CEP85L, CLVS2, COL10A1, DCBLD1, DSE, ECHDC1, FABP7, FAM162B, FAM184A, FRK, GJA1, GOPC, GPRC6A, HDAC2, HDDC2, HEY2, HINT3, HS3ST5, HSF2, KIAA0408, KPNA5, L3MBTL3, LAMA2, LINC02523, LINC02534, LINC02880, LNCPOIR, LOC100126584, LOC100287467, LOC101927919, LOC102723341, LOC105377967, LOC105377975, LOC108228196, LOC110121273, LOC113146409, LOC113146413, LOC116183067, LOC116183068, LOC121132704, LOC121132705, LOC121132706, LOC121740665, LOC123833526, LOC123833527, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC123864063, LOC123864064, LOC123864065, LOC123864066, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC126859780, LOC126859781, LOC126859782, LOC126859783, LOC126859784, LOC127407129, LOC128667231, LOC129389621, LOC129389622, LOC129389623, LOC129389624, LOC129389625, LOC129389626, LOC129389627, LOC129389628, LOC129389629, LOC129389630, LOC129389631, LOC129389632, LOC129389633, LOC129389634, LOC129389635, LOC129389636, LOC129389637, LOC129389638, LOC129389639, LOC129389640, LOC129389641, LOC129389642, LOC129389643, LOC129389644, LOC129389645, LOC129389646, LOC129997024, LOC129997025, LOC129997026, LOC129997027, LOC129997028, LOC129997029, LOC129997030, LOC129997031, LOC129997032, LOC129997033, LOC129997034, LOC129997035, LOC129997036, LOC129997037, LOC129997038, LOC129997039, LOC129997040, LOC129997041, LOC129997042, LOC129997043, LOC129997044, LOC129997045, LOC129997046, LOC129997047, LOC129997048, LOC129997049, LOC129997050, LOC129997051, LOC129997052, LOC129997053, LOC129997054, LOC129997055, LOC129997056, LOC129997057, LOC129997058, LOC129997059, LOC129997060, LOC129997061, LOC129997062, LOC129997063, LOC129997064, LOC129997065, LOC129997066, LOC129997067, LOC129997068, LOC129997069, LOC129997070, LOC129997071, LOC129997072, LOC129997073, LOC129997074, LOC129997075, LOC129997076, LOC129997077, LOC129997078, LOC129997079, LOC129997080, LOC129997081, LOC129997082, LOC129997083, LOC129997084, LOC129997085, LOC129997086, LOC129997087, LOC129997088, LOC129997089, LOC129997090, LOC129997091, LOC129997092, LOC129997093, LOC129997094, LOC129997095, LOC129997096, LOC129997097, LOC129997098, LOC129997099, LOC129997100, LOC129997101, LOC129997102, LOC129997103, LOC129997104, LOC129997105, LOC129997106, LOC129997107, LOC129997108, LOC129997109, LOC129997110, LOC129997111, LOC129997112, LOC129997113, LOC129997114, LOC129997115, LOC129997116, LOC129997117, LOC129997118, LOC129997119, LOC129997120, LOC129997121, LOC129997122, LOC129997123, LOC129997124, LOC129997125, LOC129997126, LOC129997127, LOC129997128, LOC129997129, LOC129997130, LOC129997131, LOC129997132, LOC129997133, LOC129997134, LOC129997135, LOC129997136, LOC129997137, LOC129997138, LOC129997139, LOC129997140, LOC129997141, LOC129997142, LOC129997143, LOC129997144, LOC129997145, LOC129997146, LOC129997147, LOC129997148, LOC129997149, LOC129997150, LOC129997151, LOC129997152, LOC132089311, LOC132089312, LOC132089313, LOC132089314, LOC132089315, LOC132089316, LOC132089317, LOC132089318, LOC132089319, LOC132089320, LOC132089321, LOC132089322, LOC132089323, LOC132089324, LOC132089325, LOC132089326, LOC132089327, LOC132089328, LOC132089329, LOC132089330, LOC132089331, LOC132089332, LOC132089333, LOC132090764, LOC132090765, LOC132090766, LOC132090767, LOC285762, MAN1A1, MARCKS, MCM9, MIR3144, MIR548B, MIR588, MROCKI, MTCL3, NCOA7, NKAIN2, NT5DC1, NUS1, PKIB, PLN, PTPRK, RFX6, RNF146, RNF217, ROS1, RSPH4A, RSPO3, RWDD1, SAMD3, SERINC1, SLC35F1, SMPDL3A, SOGA3-KIAA0408, TBC1D32, THEMIS, TMEM200A, TMEM244, TPD52L1, TRAPPC3L, TRDN, TRE-CTC1-7, TRMT11, TSPYL1, TSPYL4, VGLL2, ZUP1 1 0 0 0 0 0 1
ARHGAP6, FRMPD4, LOC113845784, LOC129391294, LOC130067941, LOC130067942, MSL3 0 0 1 0 0 0 1
ARID2, LINC00938, LOC130007727, LOC130007728 1 0 0 0 0 0 1
ARID2, SCAF11 1 0 0 0 0 0 1
ARX, LOC110120595, LOC110120597, POLA1 0 0 1 0 0 0 1
ARX, POLA1 0 1 0 0 0 0 1
ASH1L, MIR555 0 0 1 0 0 0 1
ATP6AP1, ATP6AP1-DT, CTAG1A, DNASE1L1, EMD, FAM223A, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, LOC107181288, LOC107988021, LOC107988022, LOC107988032, LOC107988033, LOC108281126, LOC121627985, LOC121853072, LOC129929052, LOC130068856, LOC130068857, LOC130068858, LOC130068859, LOC130068860, LOC130068861, LOC130068862, LOC130068863, LOC130068864, LOC130068865, LOC130068866, LOC130068867, LOC130068868, LOC130068869, LOC130068870, LOC130068871, LOC130068872, LOC130068873, LOC130068874, LOC130068875, LOC130068876, LOC130068877, LOC130068878, LOC130068879, LOC130068880, LOC130068881, MIR6858, PLXNA3, RPL10, SLC10A3, SNORA70, TAFAZZIN, UBL4A 1 0 0 0 0 0 1
ATP6AP1, FAM50A, GDI1 0 1 0 0 0 0 1
AUTS2 1 0 0 0 0 0 1
BCL11A 0 0 1 0 0 0 1
BRME1, CC2D1A 1 0 0 0 0 0 1
C8orf17, TRAPPC9 1 0 0 0 0 0 1
CASK, DDX3X, GPR34, GPR82, LOC113875025, LOC126863241, LOC130068160, LOC130068161, LOC130068162, LOC130068163, LOC130068164, LOC130068165, LOC130068166, LOC130068167, LOC130068168, LOC130068169, LOC130068170, LOC130068171, LOC130068172, LOC130068173, NYX 1 0 0 0 0 0 1
CC2D1A, LOC129391070 1 0 0 0 0 0 1
CENPT, THAP11 0 1 0 0 0 0 1
CEP104, LOC126805586 1 0 0 0 0 0 1
CHMP1A 0 1 0 0 0 0 1
CIC, LOC130064572 0 0 1 0 0 0 1
CLTC, LOC125177523, LOC126862609, LOC130061329, PTRH2 0 1 0 0 0 0 1
CSNK2B 0 1 0 0 0 0 1
CSTF2 1 0 0 0 0 0 1
DEAF1 0 1 0 0 0 0 1
DPP6, LOC101929998 1 0 0 0 0 0 1
EEF1D 1 0 0 0 0 0 1
EEFSEC 0 1 0 0 0 0 1
FAM120C, FGD1, HSD17B10, HUWE1, IQSEC2, KDM5C, MIR98, MIRLET7F2, PHF8, RIBC1, SMC1A, TSR2, WNK3 0 0 1 0 0 0 1
FGF13 1 0 0 0 0 0 1
FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 1
FMN2, LOC126806069 0 0 1 0 0 0 1
GIGYF1 0 0 1 0 0 0 1
GNB1 0 1 0 0 0 0 1
GPI 0 0 1 0 0 0 1
GPR173, HSD17B10, HUWE1, IQSEC2, KDM5C, MIR98, MIRLET7F2, PHF8, RIBC1, SMC1A, TSPYL2 1 0 0 0 0 0 1
GRIN2B 1 0 0 0 0 0 1
HSD17B10, HUWE1, IQSEC2, KDM5C, MIR98, MIRLET7F2, RIBC1, SMC1A 0 0 1 0 0 0 1
HSD17B10, HUWE1, IQSEC2, RIBC1, SMC1A 0 0 0 1 0 0 1
IL1RAPL1, ZNF611 1 0 0 0 0 0 1
IL20RB, LOC112903838, LOC123038189, LOC123038190, LOC126806819, LOC126806820, LOC129389139, LOC129937631, LOC129937632, LOC129937633, LOC129937634, LOC129937635, LOC129937636, LOC129937637, LOC129937638, LOC129937639, LOC129937640, LOC129937641, LOC129937642, MSL2, NCK1, NCK1-DT, PCCB, PPP2R3A, SLC35G2, STAG1, STAG1-DT 0 1 0 0 0 0 1
IQSEC2, KDM5C 1 0 0 0 0 0 1
JARID2 0 1 0 0 0 0 1
KDM5B, LOC129932249 0 0 1 0 0 0 1
KIF1A 0 1 0 0 0 0 1
KLHL15, LOC114022706 0 0 1 0 0 0 1
LHFPL5 1 0 0 0 0 0 1
LOC112903838, LOC123038189, LOC123038190, LOC126806819, LOC126806820, LOC129937631, LOC129937632, LOC129937633, LOC129937634, MSL2, PCCB, PPP2R3A, STAG1 0 1 0 0 0 0 1
LOC129389624, NUS1 1 0 0 0 0 0 1
LOC129994183, LOC129994184, MEF2C 1 0 0 0 0 0 1
LOC129994186, MEF2C 1 0 0 0 0 0 1
LOC130002719, SET 0 0 1 0 0 0 1
LOC130003078, LOC130003079, MAN1B1 0 0 1 0 0 0 1
LOC130003080, MAN1B1 1 0 0 0 0 0 1
LOC130008643, WASHC4 0 0 1 0 0 0 1
LOC130056407, VRK1 0 0 1 0 0 0 1
LOC130061370, TLK2 0 0 1 0 0 0 1
LOC130068281, SYP 0 1 0 0 0 0 1
MBOAT7, TSEN34 0 0 0 1 0 0 1
MECP2 1 0 0 0 0 0 1
MEF2C, MIR9-2 1 0 0 0 0 0 1
MGARP, NAA15, NDUFC1, RAB33B 0 1 0 0 0 0 1
MIR3911, STXBP1 0 1 0 0 0 0 1
MMP20 0 0 1 0 0 0 1
MRC2, TLK2 0 1 0 0 0 0 1
MROH6 0 0 1 0 0 0 1
NPHP1 0 0 0 0 1 0 1
NTF4 0 0 0 1 0 0 1
OTUD7A 1 0 0 0 0 0 1
PHIP 0 0 1 0 0 0 1
PIP5K1A 0 1 0 0 0 0 1
POLG 0 0 1 0 0 0 1
PPM1D 1 0 0 0 0 0 1
PRICKLE2 0 0 1 0 0 0 1
QARS1 0 1 0 0 0 0 1
REN 0 0 1 0 0 0 1
SCN2A 1 0 0 0 0 0 1
SERPINA1 1 0 0 0 0 0 1
SETSIP 1 0 0 0 0 0 1
SLC25A43, SLC25A5, STEEP1 0 1 0 0 0 0 1
SYNGAP1 0 1 0 0 0 0 1
TMEM276, TMEM276-ZFTRAF1, ZFTRAF1 0 0 1 0 0 0 1
TRPM3 1 0 0 0 0 0 1
WDR1 1 0 0 0 0 0 1
ZNF292 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 236
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 269 52 1062 2196 592 0 4171
Illumina Laboratory Services, Illumina 6 9 402 54 173 0 642
Baylor Genetics 42 45 408 0 0 0 495
OMIM 462 0 5 0 0 0 467
Revvity Omics, Revvity 18 28 343 4 0 0 393
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 63 34 110 13 0 0 220
Institute of Human Genetics, University of Leipzig Medical Center 79 46 69 5 2 0 201
Genome-Nilou Lab 1 3 15 4 178 0 201
New York Genome Center 5 8 158 0 0 0 171
Fulgent Genetics, Fulgent Genetics 5 10 68 72 8 0 163
3billion 25 42 19 24 0 0 110
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 13 25 64 4 0 0 106
Neuberg Centre For Genomic Medicine, NCGM 12 15 72 0 0 0 99
Tumer Group, Copenhagen University Hospital, Rigshospitalet 45 15 11 0 0 0 71
Mendelics 34 9 15 9 3 0 70
PreventionGenetics, part of Exact Sciences 0 1 27 35 6 0 69
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 31 29 0 0 0 0 60
Natera, Inc. 1 1 48 7 3 0 60
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 5 45 3 2 0 60
Juno Genomics, Hangzhou Juno Genomics, Inc 16 20 24 0 0 0 60
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 22 32 1 0 0 0 55
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 13 42 0 0 0 55
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 16 11 26 0 0 0 53
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 5 39 0 0 0 47
GenomeConnect - Brain Gene Registry 0 0 0 0 0 45 45
MGZ Medical Genetics Center 6 18 19 1 0 0 44
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 10 30 2 2 0 0 44
SIB Swiss Institute of Bioinformatics 13 19 9 0 0 0 41
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 15 13 11 1 1 0 41
MVZ Medizinische Genetik Mainz 2 11 26 0 0 0 39
Centogene AG - the Rare Disease Company 2 8 27 0 0 0 37
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 25 12 0 0 0 0 37
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 5 25 1 1 0 37
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 6 5 21 0 0 0 32
Gene2Care/ Palmer Lab, University of New South Wales 3 6 22 0 0 0 31
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 9 7 13 1 0 0 30
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 10 18 1 0 0 0 29
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 3 9 3 10 0 25
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 13 11 1 0 0 0 25
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 10 3 12 0 0 0 25
Genetics Department, University Hospital of Angers 18 2 3 1 0 0 24
Institute of Human Genetics, University of Goettingen 1 9 12 1 0 0 23
Génétique des Maladies du Développement, Hospices Civils de Lyon 13 9 1 0 0 0 23
Molecular Genetics Lab, CHRU Brest 6 4 12 0 0 0 22
Genetic Services Laboratory, University of Chicago 16 3 2 0 0 0 21
GenomeConnect, ClinGen 0 0 0 0 0 20 20
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 7 3 8 2 0 0 20
Laboratory of Medical Genetics, University of Torino 11 5 5 0 0 0 20
Clinical Genomics Laboratory, Washington University in St. Louis 1 4 14 0 0 0 19
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 6 11 0 0 0 19
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 7 4 7 0 0 0 18
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 4 14 0 0 0 0 18
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 10 6 1 0 0 0 17
Genetics and Molecular Pathology, SA Pathology 4 4 9 0 0 0 17
Solve-RD Consortium 0 17 0 0 0 0 17
Service de Génétique Moléculaire, Hôpital Robert Debré 1 9 3 3 0 0 16
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 6 7 0 0 0 16
GeneReviews 1 0 0 0 0 13 14
Undiagnosed Diseases Network, NIH 7 6 1 0 0 0 14
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 8 5 1 0 0 0 14
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 12 0 0 0 14
GenomeConnect - Simons Searchlight 7 5 2 0 0 0 14
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 4 7 2 0 0 0 13
Mayo Clinic Laboratories, Mayo Clinic 1 1 11 0 0 0 13
Institute of Immunology and Genetics Kaiserslautern 1 8 4 0 0 0 13
Institute of Human Genetics, University Hospital of Duesseldorf 3 3 6 0 0 0 12
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 7 1 0 0 0 12
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 3 2 7 0 0 0 12
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 12 0 0 0 12
Breda Genetics srl 1 2 9 0 0 0 12
Johns Hopkins Genomics, Johns Hopkins University 1 7 3 1 0 0 12
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 7 3 0 1 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 5 5 0 11
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 5 4 1 0 0 0 10
Genomic Medicine Lab, University of California San Francisco 4 2 4 0 0 0 10
Pediatric Genetics Clinic, Sheba Medical Center 8 2 0 0 0 0 10
Hadassah Hebrew University Medical Center 1 4 4 0 0 0 9
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 5 4 0 0 0 0 9
Department of Human Genetics, Hannover Medical School 0 0 9 0 0 0 9
Institute of Human Genetics, Cologne University 2 5 1 0 0 0 8
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 6 1 0 0 0 8
Duke University Health System Sequencing Clinic, Duke University Health System 2 5 1 0 0 0 8
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 0 2 0 0 0 8
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 6 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 7 0 0 0 8
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 3 0 2 0 0 7
Daryl Scott Lab, Baylor College of Medicine 3 1 2 1 0 0 7
Clinical Genomics Laboratory, Stanford Medicine 0 4 3 0 0 0 7
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 2 3 0 0 0 7
Daan van Aalten Lab, University of Dundee 5 0 1 0 0 0 6
Suma Genomics 1 3 2 0 0 0 6
Genomics England Pilot Project, Genomics England 1 5 0 0 0 0 6
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 3 0 3 0 0 0 6
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 3 3 0 0 0 0 6
Dr.Nikuei Genetic Center 1 2 0 2 1 0 6
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 0 3 0 1 0 5
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 2 0 0 0 5
Institute of Human Genetics, University Hospital Muenster 3 1 1 0 0 0 5
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 3 2 0 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 3 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 3 0 0 0 4
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 4 0 0 0 0 0 4
Institute of Human Genetics, Heidelberg University 3 1 0 0 0 0 4
Institute for Human Genetics, University Hospital Essen 2 1 1 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 3 1 0 0 4
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 3 0 0 0 4
Lifecell International Pvt. Ltd 1 3 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
DASA 4 0 0 0 0 0 4
Tan Lab, Dept of Cell Biology, University of Alberta 4 0 0 0 0 0 4
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 3 0 1 0 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 1 0 0 0 0 3
Institute of Human Genetics, University of Ulm 2 1 0 0 0 0 3
Laboratory of Human Genetics, Universidade de São Paulo 2 0 1 0 0 0 3
Dobyns Lab, Seattle Children's Research Institute 2 1 0 0 0 0 3
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 2 1 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Bezmialem Vakif University, Medical Faculty 1 0 2 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 0 2 0 0 1 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 1 0 0 0 3
Kids Neuroscience Centre, Sydney Children's Hospitals Network 2 0 1 0 0 0 3
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 3 0 0 0 0 0 3
DECIPHERD-UDD, Universidad del Desarrollo 0 2 1 0 0 0 3
Athena Diagnostics 0 0 0 0 2 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Center for Human Genetics, University of Leuven 0 2 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 2 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 1 1 0 0 0 2
Hunter Genetics General Clinical Genetics Service, Hunter Genetics 0 1 1 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 2 0 0 0 0 2
Neurogenetics Research Program, University of Adelaide 1 0 0 0 1 0 2
Wangler Lab, Baylor College of Medicine 0 0 2 0 0 0 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 2 0 0 0 0 2
Clinical Genetics, University of Leipzig 1 1 0 0 0 0 2
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 2 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 1 1 0 0 0 0 2
Medical Genetics Laboratory, Tarbiat Modares University 0 2 0 0 0 0 2
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 1 1 0 0 0 0 2
Pars Genome Lab 0 0 0 1 1 0 2
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 2 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 1 1 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 2
Payam Genetics Center, General Welfare Department of North Khorasan Province 2 0 0 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 1 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 1 0 0 0 0 2
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 0 1 0 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 0 1 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Counsyl 0 0 1 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Department of Clinical Science, University of Bergen 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 1 0 0 0 0 0 1
Centro Hospitalar S Joao, Faculty of Medicine of Porto 1 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 0 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Leeds Institute of Biomedical and Clinical Sciences, University of Leeds 1 0 0 0 0 0 1
KK Women’s and Children’s Hospital 0 0 0 1 0 0 1
TIDEX, University of British Columbia 0 0 1 0 0 0 1
Center for Medical Genetics, Keio University School of Medicine 0 1 0 0 0 0 1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 0 1 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 1
Genetics Division, Universidade Federal de Sao Paulo 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Faculty of Medicine, Prince of Songkla University, Thailand 0 1 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 0 1 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 1 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 1 0 0 0 0 1
Medical Genome Center, National Center of Neurology and Psychiatry 0 1 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 0 1 0 0 0 0 1
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University 0 1 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 1 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Biological Sciences, International Islamic University, Islamabad 1 0 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 1
Precision Medical Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 1 0 0 0 0 0 1
Medical Genetics Laboratory, Gulhane Training and Research Hospital 0 0 1 0 0 0 1
Paris Brain Institute, Inserm - ICM 1 0 0 0 0 0 1
Pediatrics, West China Second University Hospital, Sichuan University 0 1 0 0 0 0 1
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean 1 0 0 0 0 0 1
Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Neurology Department, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Department of Laboratory Medicine and Genetics, Samsung Medical Center 0 1 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Department of Biochemistry and Molecular Biology, Faculty of Medicine, Al-Neelain University 1 0 0 0 0 0 1
Spanish Undiagnosed Rare Disease Program-IIER, Instituto de Salud Carlos III 1 0 0 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 1 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 0 0 0 1
UO Genetica Medica, University of Bologna 0 1 0 0 0 0 1
Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb 0 1 0 0 0 0 1
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa 0 0 1 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1
Clinical Research Ward, Shanghai Children's Medical Center 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 1 0 0 0 0 0 1
Jpch, Dept Of Neurology, Jiangxi Provincial Children’s Hospital 1 0 0 0 0 0 1
Tammimies Lab, Karolinska Institutet 0 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 1
Pediatric Lab, Suzhou Municipal Hospital 0 0 1 0 0 0 1
SC Genetica Medica, ASST Santi Paolo e Carlo 0 1 0 0 0 0 1
Clinical Genetics, University Hospital Uppsala 0 1 0 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 1 0 0 0 0 0 1
Research Institute of Medical Genetics, Tomsk National Research Medical Center of Russian Academy of Sciences 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 1

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