ClinVar Miner

Variants studied for congenital myopathy

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
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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 not provided total
3650 4208 27075 30733 5021 1 265 66713

Gene and significance breakdown #

Total genes and gene combinations: 331
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
TTN 257 1987 6420 10497 1457 0 31 18879
NEB 562 466 2234 4769 415 0 7 7767
FLNC 293 72 1792 1882 181 0 7 4144
COL12A1 56 27 1235 1187 131 0 18 2596
COL6A3 81 45 997 1255 246 0 9 2576
SDHA 145 66 1263 812 53 0 8 2282
NEB, RIF1 206 188 577 1255 112 0 4 2129
COL6A2 140 69 571 730 112 0 8 1585
COL6A1 103 51 310 670 262 0 6 1361
RYR1 126 123 746 152 97 0 19 1157
BAG3 82 7 555 276 47 0 1 934
MYH2, MYHAS 41 18 560 313 33 0 0 929
DES 78 34 492 263 28 0 4 867
LDB3 10 1 549 273 46 0 0 862
MEGF10 32 13 528 286 46 0 0 854
MTM1 169 69 116 258 66 0 2 644
BIN1 7 6 310 257 39 0 2 582
KBTBD13 4 2 305 182 78 0 1 545
STIM1 17 9 281 211 29 0 3 542
CCDC78 1 1 272 210 30 0 2 511
SELENON 73 35 221 178 28 0 1 500
CNTN1 15 4 215 220 28 0 3 482
HADHB 52 60 129 227 22 0 0 459
KLHL40 27 17 243 137 21 0 1 435
GAREM2, HADHA 63 21 87 260 18 0 0 432
ACTA1 116 69 151 106 20 0 7 425
AMPD1 3 5 263 137 25 0 2 411
PRICKLE2 2 0 238 146 21 0 0 406
HADHA 50 30 69 245 8 0 0 391
TAFAZZIN 45 47 142 141 10 0 0 358
CACNA1S 11 2 115 150 72 0 0 347
MYOT, PKD2L2-DT 7 2 205 124 22 0 1 339
TPM3 20 15 180 95 26 0 12 315
LMOD3 23 4 174 84 16 0 0 297
MYH7 31 25 181 54 49 0 6 294
GH-LCR, SCN4A 15 7 179 40 35 0 2 273
TNNT1 19 13 110 118 14 0 1 260
KLHL41 21 6 128 85 15 0 0 251
LOC101927055, TTN 1 4 80 154 22 0 0 242
STAC3 11 3 106 89 9 0 5 216
LOC126806422, TTN 1 38 48 121 15 0 0 203
LOC126806423, TTN 5 33 47 107 13 0 0 188
CHCHD10 4 1 100 69 10 0 4 186
LOC126806425, TTN 1 35 49 100 20 0 0 178
ORAI1 4 7 97 61 8 0 1 175
POLG, POLGARF 34 30 95 12 4 0 7 169
LOC126806424, TTN 3 30 47 91 14 0 0 168
LOC130008987, ORAI1 3 0 114 47 3 0 1 166
LOC126806430, TTN 0 1 47 115 20 0 0 163
LOC126806421, TTN 1 28 43 87 12 0 0 160
LOC126862500, MYH2, MYHAS 11 9 89 49 6 0 0 160
LOC126806431, TTN 0 1 52 103 11 0 0 155
SCN4A 9 3 100 29 12 0 1 149
NDUFA10 0 0 116 12 16 0 0 144
LOC126806426, TTN 0 23 35 81 8 0 0 139
LOC126806420, TTN 0 28 36 70 15 0 0 133
LOC129935183, TTN 2 13 84 31 7 0 0 130
LOC126806433, TTN 0 6 48 76 4 0 0 128
LOC126806427, TTN 2 3 46 77 13 0 0 126
DNM2 13 5 54 10 43 0 1 121
LOC126806428, TTN 0 1 36 88 10 0 0 121
MYPN 8 2 87 13 11 0 1 121
CFL2 8 0 68 31 12 0 0 118
AMPD3 1 0 89 8 14 1 0 111
TYMP 43 24 38 4 8 0 0 108
RRM2B 3 3 52 12 36 0 1 105
ACTN2 2 2 76 12 10 0 0 100
LDB3, LOC110121486 2 1 59 37 8 0 2 100
CLCN1 5 3 27 22 29 0 14 99
TWNK 12 10 46 6 29 0 1 99
LOC124418421, STIM1 0 0 69 21 2 0 0 92
LOC126806373, NEB 5 3 31 62 3 0 0 91
MYO18B 10 16 48 4 14 0 2 91
LOC126806429, TTN 0 0 31 56 10 0 0 86
PUS1 5 13 47 19 13 0 0 86
NUBPL 0 1 70 2 10 0 0 83
SLC25A4 5 1 45 6 26 0 0 82
COL12A1, LOC126859712 1 0 36 32 5 0 0 74
LMOD3, LOC126806710 7 1 32 23 7 0 0 69
LOC126862501, MYH2, MYHAS 5 4 34 23 5 0 0 68
LOC130067862, SCO2, TYMP 29 9 24 7 6 0 0 68
NDUFS1 1 2 47 10 5 0 0 65
LOC129935182, TTN 2 7 44 13 1 0 0 64
NDUFAF4 0 0 44 7 7 0 0 58
COL6A3, LOC126806573 1 0 19 32 5 0 0 57
LOC126861897, MHRT, MYH7 13 2 35 3 5 0 3 56
MT-TT 1 0 6 10 36 0 0 53
NCAPH2, SCO2 15 10 28 3 0 0 0 53
FOXRED1 1 0 43 2 2 0 0 47
YARS2 7 4 25 4 8 0 0 44
TPM2 8 4 18 6 8 0 1 43
CRYAB 7 1 26 3 6 0 3 40
NDUFS2 0 0 35 2 3 0 0 40
ASIC4, SPEG 4 4 25 1 7 0 1 39
MILR1, POLG2 3 0 21 4 13 0 0 39
MYF6 0 0 26 12 3 0 0 39
DNASE1L1, LOC130068869, TAFAZZIN 2 4 16 17 1 0 0 38
NDUFS4 9 16 10 0 4 0 0 38
SDHD 6 5 25 1 3 0 0 38
NDUFV1 0 1 34 0 2 0 0 37
SPEG 3 1 29 1 2 0 1 37
COL6A3, LOC122889011 11 7 10 8 1 0 0 36
MT-TH 1 1 12 4 16 0 2 35
NDUFAF1 0 0 27 4 4 0 0 35
MT-TW 7 1 8 5 13 0 1 33
MT-TF 4 2 5 6 15 0 2 32
MHRT, MYH7 4 2 20 5 5 0 1 31
MSTO1 10 5 18 1 1 0 0 31
MT-TK 6 3 6 7 10 0 6 31
MT-TL1 13 4 8 4 6 0 7 31
LOC129935184, TTN 2 0 20 10 4 0 1 30
MT-TC 1 0 6 4 19 0 0 29
FHL1 9 4 13 1 1 0 0 28
LOC126862902, RYR1 2 3 13 6 7 0 0 28
MT-TG 0 1 11 5 11 0 0 28
MT-TV 4 3 12 6 5 0 2 28
NDUFAF3 1 0 27 0 0 0 0 28
FLNC, LOC129999273 2 0 10 13 2 0 0 27
MT-TD 0 1 9 6 11 0 0 27
MT-TQ 1 1 4 4 17 0 1 27
MT-TS2 3 2 7 2 13 0 1 25
DNA2 4 3 8 5 3 0 1 24
MT-TS1 4 0 6 3 10 0 1 23
DNM1L, YARS2 0 0 5 17 7 0 0 22
MT-TI 4 3 5 2 10 0 0 22
MT-TL2 3 1 6 2 9 0 1 22
MT-TA 3 0 6 4 8 0 0 21
PYROXD1 7 2 5 0 8 0 0 21
MT-TR 2 3 3 4 8 0 0 20
MT-TY 2 0 9 5 4 0 0 20
NDUFS3 0 0 20 0 0 0 0 20
PNPLA8 5 4 9 0 2 0 0 20
LOC126861898, MYH7 1 5 10 3 2 0 0 19
LOC129935185, TTN 0 1 13 5 1 0 0 19
MT-TE 5 3 2 2 9 0 0 19
MT-TP 2 1 9 2 6 0 0 19
NDUFS8 0 0 18 0 1 0 0 19
MYL2 4 2 10 1 1 0 0 18
LOC126861242, NDUFV1 2 2 13 1 0 0 0 17
MYBPC1 4 1 2 2 9 0 0 17
NDUFS7 0 0 15 0 2 0 0 17
DNASE1L1, TAFAZZIN 3 2 5 6 1 0 0 16
MT-ND5 7 3 4 0 0 0 7 16
SDHB 5 1 7 4 2 0 0 16
TOP3A 3 1 3 2 7 0 0 16
LOC126806432, TTN 0 0 12 2 1 0 0 15
MT-TN 1 0 5 2 7 0 0 15
BIN1, LOC122819150 0 0 13 1 0 0 0 14
COX15 5 3 5 0 2 0 0 14
MT-TM 1 1 5 1 6 0 0 14
NDUFV2 0 0 11 1 2 0 0 14
NDUFA11 0 0 13 0 0 0 0 13
NDUFA2, TMCO6 0 0 11 0 2 0 0 13
NDUFAF2 0 1 10 2 0 0 0 13
SDHAF1 1 0 10 1 1 0 0 13
CEP63, KY 4 1 4 0 3 0 0 12
LOC129391106, RYR1 1 0 7 4 2 0 0 12
LOC130065089, TNNT1 3 0 6 3 0 0 0 12
NDUFS6 0 0 11 0 1 0 0 12
TK2 6 0 2 1 3 0 0 12
LOC129935186, TTN 0 2 3 7 1 0 0 11
LOC129993885, NDUFS4 1 1 8 0 1 0 0 11
LOC130067862, TYMP 5 2 4 1 0 0 0 11
MT-CYB 3 3 3 0 0 0 2 11
MYH2 1 1 9 0 0 0 0 11
RYR3 4 0 7 0 0 0 0 11
CCDC174 0 0 5 1 4 0 0 10
DGUOK 6 0 3 1 1 0 0 10
LOC112552175, NDUFA11 0 0 7 1 2 0 0 10
LOC129935473, NDUFS1 0 0 9 0 1 0 0 10
GFER 5 2 2 0 1 0 2 9
LOC130009240, PUS1 1 3 2 2 1 0 0 9
LOC130067864, TYMP 6 1 3 0 1 0 0 9
MAP3K20 3 0 0 1 5 0 0 9
​intergenic 8 0 0 0 0 0 0 8
FXR1 4 0 3 1 0 0 0 8
LOC132090059, PUS1 1 2 3 2 3 0 0 8
MT-ND1 5 4 0 0 0 0 4 8
PAX7 4 1 3 0 1 0 0 8
SVIL 2 0 4 2 0 0 0 8
UNC45B 5 0 2 0 1 0 0 8
COA6 3 0 1 1 2 0 0 7
COL6A2, FTCD 0 0 0 1 7 0 0 7
HMGCS1 7 0 0 0 0 0 0 7
LOC126861897, MYH7 0 1 5 1 1 0 0 7
LOC130064279, SDHAF1 2 1 4 0 0 0 0 7
LOC130064357, RYR1 0 0 6 1 1 0 0 7
SCO2, TYMP 0 0 5 3 1 0 0 7
COL12A1, LOC129996730 1 1 2 2 0 0 0 6
DNM2, LOC130063529 0 0 6 0 0 0 0 6
LOC130000897, RRM2B 0 0 1 0 5 0 0 6
LOC130006217, NDUFV1 0 0 5 0 1 0 0 6
LOC130062145, NDUFV2 0 0 6 0 0 0 0 6
MTMR14 0 1 4 1 0 0 0 6
NCAPH2, SCO2, TYMP 0 0 1 3 4 0 0 6
RNASEH1 3 1 1 0 2 0 0 6
FANCI, POLG, POLGARF 0 0 2 0 3 0 0 5
GFER, LOC130058203 2 2 1 1 0 0 0 5
HACD1 5 0 0 0 0 0 0 5
HADHA, HADHB 0 0 2 2 1 0 0 5
LOC129993501, SLC25A4 0 0 2 0 3 0 0 5
LOC130005165, STIM1 0 0 3 2 0 0 0 5
LOC130064281, SDHAF1 0 0 3 1 1 0 0 5
TIMMDC1 0 1 4 0 0 0 0 5
TNNI3, TNNT1 1 0 1 2 3 0 0 5
DNAJB4 4 0 0 0 0 0 0 4
FOXRED1, LOC130007026 0 0 3 0 1 0 0 4
LOC129931761, NDUFS2 0 0 3 0 1 0 0 4
LOC130067866, TYMP 0 0 4 0 0 0 0 4
MYOD1 3 0 1 0 0 0 0 4
ACTA1, LOC122152321 0 0 1 0 2 0 0 3
COL6A1, COL6A2, COL6A2-DT, LOC121853033, LOC130066866 1 0 2 0 0 0 0 3
DES, DES-LCR 0 0 2 1 0 0 0 3
DGUOK, LOC129934096 2 0 1 0 0 0 0 3
FDX2, FDX2-ZGLP1 2 1 1 0 1 0 0 3
LOC114827850, MYL2 0 1 2 0 0 0 0 3
LOC126861339, SDHD 0 0 2 0 1 0 0 3
LOC129996857, NDUFAF4 0 0 3 0 0 0 0 3
LOC130064280, SDHAF1 3 0 0 0 0 0 0 3
LOC130065433, NDUFAF5 0 0 3 0 0 0 0 3
LOC132089829, MYPN 0 0 2 0 1 0 0 3
MT-CO1 0 2 0 0 0 0 1 3
MT-CO3 1 0 1 0 0 0 1 3
MT-ND6 1 1 1 0 0 0 1 3
MYL1 2 1 0 0 1 0 0 3
SCO2 0 0 1 1 2 0 0 3
ACKR3, COL6A3, COPS8 1 0 1 0 0 0 0 2
ARL5A, CACNB4, NEB 2 0 0 0 0 0 0 2
ASCC3 0 1 1 0 0 0 0 2
BIN1, LOC112806045 0 0 2 0 0 0 0 2
C22orf15, CHCHD10 0 0 2 0 0 0 0 2
CEP63, KY, LOC123038188 0 1 0 0 1 0 0 2
CFL2, LOC130055474, LOC130055475 1 0 1 0 0 0 0 2
CLCN1, LOC123956257 0 0 2 0 0 0 0 2
EDAR, RANBP2 1 1 0 0 0 0 0 2
ERCC8, NDUFAF2 1 0 0 0 1 0 0 2
FDX2, FDX2-ZGLP1, LOC130063486 0 0 1 0 1 0 0 2
LARS2 0 1 1 0 0 0 0 2
LDB3, LOC110121486, LOC130004243, LOC132089876 0 0 2 0 0 0 0 2
LOC129936729, NDUFAF3 0 0 2 0 0 0 0 2
LOC129936730, NDUFAF3 0 0 2 0 0 0 0 2
LOC129936731, NDUFAF3 0 0 2 0 0 0 0 2
LOC130000896, RRM2B 0 1 1 0 0 0 0 2
LOC130067861, SCO2 0 0 2 0 0 0 0 2
LOC130067861, SCO2, TYMP 0 0 0 0 2 0 0 2
MRPL36, NDUFS6 0 0 2 0 0 0 0 2
MT-ATP6 1 1 0 0 0 0 0 2
MYO15B 0 0 2 0 0 0 0 2
NDUFAF5 0 0 1 0 0 0 1 2
NDUFS8, TCIRG1 0 0 0 1 1 0 0 2
RRM1 2 0 0 0 0 0 0 2
SLIRP 0 2 0 0 0 0 0 2
TMEM126B 1 0 1 0 0 0 0 2
TNNC2 2 0 0 0 0 0 0 2
ABCB10, ACTA1, AGT, ARV1, C1orf131, C1orf198, CAPN9, COG2, DISC1, DISC2, EGLN1, EXOC8, FAM89A, GALNT2, GNPAT, NUP133, PGBD5, SPRTN, TAF5L, TRIM67, TSNAX, TTC13, URB2 0 0 1 0 0 0 0 1
ABCB6, ANKZF1, ATG9A, BCS1L, CATIP, CDK5R2, CFAP65, CNOT9, CNPPD1, CRYBA2, CTDSP1, CYP27A1, DES, DNAJB2, DNPEP, FEV, GLB1L, IHH, MIR26B, MIR375, NHEJ1, PLCD4, PNKD, PRKAG3, PTPRN, RESP18, RETREG2, RNF25, SLC11A1, SLC23A3, STK16, STK36, TMBIM1, TTLL4, TUBA4A, USP37, VIL1, WNT10A, WNT6, ZFAND2B, ZNF142 1 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 0 1
ACKR3, AGAP1, AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ASB18, ATG4B, BOK, CAPN10, COL6A3, COPS8, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GBX2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, IQCA1, KIF1A, KLHL30, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 1 0 0 0 0 0 0 1
ACKR3, COL6A3, COPS8, COPS8-DT, LOC110121230, LOC112840913, LOC122889010, LOC122889011, LOC126806571, LOC126806572, LOC126806573, LOC129935916, LOC129935917, LOC93463 0 0 1 0 0 0 0 1
ANKDD1A, APH1B, CA12, CIAO2A, CILP, CLPX, CSNK1G1, DAPK2, DENND4A, DPP8, FBXL22, HACD3, HERC1, IGDCC3, IGDCC4, INTS14, KBTBD13, LACTB, MEGF11, MTFMT, OAZ2, PARP16, PCLAF, PDCD7, PIF1, PLEKHO2, PPIB, RAB11A, RAB8B, RASL12, RBPMS2, RNU5A-1, RPS27L, SLC24A1, SLC51B, SNX1, SNX22, SPG21, TRIP4, UBAP1L, USP3, ZNF609 0 1 0 0 0 0 0 1
ANTXR2 0 0 0 0 1 0 0 1
APOB 0 0 1 0 0 0 0 1
ATP13A4 0 0 0 0 1 0 0 1
ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 0 1
ATP6V0A4 0 0 0 0 1 0 0 1
ATP6V1F, FLNC, IRF5, KCP, TNPO3 0 0 1 0 0 0 0 1
BIN1, CYP27C1, ERCC3, GPR17, IWS1, LIMS2, MAP3K2, MYO7B, PROC 0 0 1 0 0 0 0 1
BIN1, LOC112806045, LOC129934710, LOC129934711, LOC129934712, LOC129934713, LOC129934714 0 0 1 0 0 0 0 1
CCDC141, FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 0 1 0 0 0 0 1
CCDC174, LOC126806614 1 0 0 0 0 0 0 1
CD46 0 0 0 1 0 0 0 1
CD99L2, GPR50, HMGB3, MAMLD1, MTM1, MTMR1, VMA21 1 0 0 0 0 0 0 1
CD99L2, GPR50, HMGB3, MTM1, MTMR1, VMA21 0 0 1 0 0 0 0 1
CLCN5 0 0 0 0 1 0 0 1
CLN8 0 0 0 0 1 0 0 1
COA5 1 0 0 0 0 0 0 1
COL6A2, LOC121853033 0 0 1 0 0 0 0 1
COL6A3, MLPH 0 0 1 0 0 0 0 1
CRX 0 0 0 0 1 0 0 1
CYP1B1 0 0 1 0 0 0 0 1
DES, LOC110121267 1 0 0 0 0 0 0 1
DNAAF3, LOC130065089, LOC130065090, LOC130065091, LOC130065092, LOC130065093, LOC130065094, LOC130065095, LOC130065096, LOC130065097, MIR6802, MIR6803, MIR6804, PPP6R1, PTPRH, SYT5, TMEM86B, TNNI3, TNNT1 0 0 1 0 0 0 0 1
FARS2, LOC126859565 0 1 0 0 0 0 0 1
FBXL4 0 1 0 0 0 0 0 1
FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 1 0 0 0 0 0 1
G6PD 1 0 0 0 0 0 0 1
GAMT, NDUFS7 0 0 0 0 1 0 0 1
GAS7, GLP2R, MYH1, MYH13, MYH2, MYH4, MYH8, RCVRN 1 0 0 0 0 0 0 1
INSR 0 0 0 1 0 0 0 1
KBTBD13, MTFMT, RASL12, SLC51B, SPG21 0 0 1 0 0 0 0 1
LDB3, LOC130004243 0 0 1 0 0 0 0 1
LDLRAP1, MAN1C1, SELENON 1 0 0 0 0 0 0 1
LOC101927055, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, TTN 0 0 1 0 0 0 0 1
LOC112081391, LOC121832782, LOC121832783, LOC124418420, LOC124418421, LOC130005165, LOC130005166, LOC130005167, LOC130005168, LOC130005169, LOC130005170, LOC130005171, LOC130005172, LOC130005173, STIM1 1 0 0 0 0 0 0 1
LOC112081413, NDUFS8 0 0 0 1 0 0 0 1
LOC114827851, MYH6, MYH7 0 0 0 1 0 0 0 1
LOC114827851, MYH7 0 0 0 1 0 0 0 1
LOC120893173, LOC122149342, LOC122149343, LOC122149344, LOC126805978, LOC129388729, PPP1R12B, SYT2 0 0 1 0 0 0 0 1
LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, PLEKHA3, TTN 0 1 0 0 0 0 0 1
LOC126806420, LOC126806421, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, TTN 0 1 0 0 0 0 0 1
LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC129388955, TTN 1 0 0 0 0 0 0 1
LOC126806425, LOC126806426, LOC126806427, TTN 0 0 1 0 0 0 0 1
LOC126806428, LOC126806429, LOC126806430, LOC126806431, TTN 0 0 1 0 0 0 0 1
LOC126862500, MYH1, MYH2, MYHAS 0 0 1 0 0 0 0 1
LOC129388955, TTN 0 0 1 0 0 0 0 1
LOC130007527, PYROXD1 0 0 0 0 1 0 0 1
LOC130064350, RYR1 0 0 1 0 0 0 0 1
LOC130065089, TNNI3, TNNT1 1 0 0 0 0 0 0 1
LOC130068796, MTM1 1 0 0 0 0 0 0 1
LPA 0 0 0 1 0 0 0 1
MAMLD1, MTM1 0 0 1 0 0 0 0 1
MEFV 0 0 0 0 1 0 0 1
MFF 0 1 0 0 0 0 0 1
MIR6766, POLG, POLGARF 0 0 0 0 1 0 0 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 0 0 0 0 0 0 1 1
MT-CO1, MT-TS1 1 0 0 0 0 0 0 1
MT-CO2 0 1 0 0 0 0 0 1
MT-ND2 0 1 0 0 0 0 0 1
MT-ND4 1 0 0 0 0 0 0 1
MVK 0 0 0 0 1 0 0 1
MYF6, OTOGL, PPP1R12A, PTPRQ 0 0 1 0 0 0 0 1
MYH2, MYH3, SCO1 0 0 1 0 0 0 0 1
MYH6, MYH7 0 0 0 0 1 0 0 1
MYOT 0 0 1 0 0 0 0 1
NDUFB11 1 0 0 0 0 0 0 1
NF1 0 0 0 0 1 0 0 1
PGAP2, RHOG, STIM1 0 0 1 0 0 0 0 1
POLRMT 0 0 1 0 0 0 0 1
PPT1 0 0 0 0 1 0 0 1
RANBP2 0 0 1 0 0 0 0 1
SLC25A42 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 220
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Invitae 2418 2733 19747 29147 3095 0 0 57138
Illumina Laboratory Services, Illumina 10 21 4139 1022 1981 0 0 5672
Fulgent Genetics, Fulgent Genetics 117 161 2508 475 78 0 0 3339
Natera, Inc. 40 20 1067 196 127 0 0 1450
Genome-Nilou Lab 0 1 124 155 1045 0 0 1325
Baylor Genetics 109 148 410 0 0 0 0 665
OMIM 621 0 11 0 0 1 1 634
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 50 38 145 90 249 0 0 572
Revvity Omics, Revvity 26 31 403 9 0 0 0 469
Counsyl 19 204 121 14 1 0 0 359
GeneReviews 147 0 1 0 9 0 122 278
Myriad Genetics, Inc. 3 245 1 0 0 0 0 249
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 44 74 71 4 12 0 0 205
Genetic Services Laboratory, University of Chicago 138 25 13 0 0 0 0 176
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 82 81 1 0 0 0 0 164
Mendelics 66 23 15 7 40 0 0 151
Centre for Mendelian Genomics, University Medical Centre Ljubljana 13 22 83 7 3 0 0 127
MGZ Medical Genetics Center 25 36 56 0 0 0 0 117
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 16 23 67 1 0 0 0 107
New York Genome Center 2 8 95 0 0 0 0 105
3billion 38 30 25 0 0 0 0 93
Genomic Research Center, Shahid Beheshti University of Medical Sciences 14 15 55 2 0 0 0 86
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 74 74
Institute of Human Genetics, University of Leipzig Medical Center 14 20 36 0 2 0 0 72
GenomeConnect, ClinGen 0 0 0 0 0 0 62 62
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 10 31 17 0 0 0 0 58
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 38 15 0 0 0 0 0 53
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 4 42 3 0 0 0 53
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 15 11 26 1 0 0 0 52
Athena Diagnostics Inc 0 0 0 0 41 0 0 41
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 14 19 8 0 0 0 0 41
Centogene AG - the Rare Disease Company 8 8 21 0 0 0 0 37
Genetics and Molecular Pathology, SA Pathology 7 10 19 0 0 0 0 36
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 8 7 21 0 0 0 0 36
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 10 9 16 0 0 0 0 35
Pediatric Department, Peking University First Hospital 12 17 3 0 0 0 0 32
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 20 10 0 0 0 0 0 30
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 11 18 0 0 0 0 0 29
Harry Perkins Institute Of Medical Research, University Of Western Australia 11 12 4 0 0 0 0 27
deCODE genetics, Amgen 2 24 0 0 0 0 0 26
KTest Genetics, KTest 18 6 0 0 0 0 0 24
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 8 14 0 0 0 0 23
NeuroMeGen, Hospital Clinico Santiago de Compostela 2 20 0 0 0 0 0 22
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 4 4 12 0 0 21
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 19 0 0 0 0 21
Phosphorus, Inc. 0 0 15 3 2 0 0 20
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 6 7 7 0 0 0 0 20
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 8 3 8 0 0 0 0 19
Undiagnosed Diseases Network, NIH 6 10 2 1 0 0 0 19
Mayo Clinic Laboratories, Mayo Clinic 1 0 17 0 0 0 0 18
Molecular Genetics, Royal Melbourne Hospital 3 2 12 0 1 0 0 18
Institute of Human Genetics, Cologne University 6 6 4 1 0 0 0 17
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 12 0 0 0 0 0 15
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 13 0 2 0 0 0 0 15
Center for Genetic Medicine Research, Children's National Medical Center 0 15 0 0 0 0 0 15
Neurogenetics Laboratory, Royal Perth Hospital 15 0 0 0 0 0 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 11 0 0 15
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 2 6 0 0 0 0 14
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 11 2 0 0 0 0 14
Breda Genetics srl 2 1 11 0 0 0 0 14
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 3 2 9 0 0 0 0 14
Genomics England Pilot Project, Genomics England 5 9 0 0 0 0 0 14
Institute of Human Genetics, University of Goettingen 0 4 9 0 0 0 0 13
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 8 4 0 0 0 0 13
SIB Swiss Institute of Bioinformatics 1 10 2 0 0 0 0 13
Suma Genomics 5 2 6 0 0 0 0 13
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 4 3 0 0 0 0 12
Johns Hopkins Genomics, Johns Hopkins University 2 4 6 0 0 0 0 12
CSER _CC_NCGL, University of Washington 0 0 6 5 0 0 0 11
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 4 7 0 0 0 0 11
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 4 6 0 0 0 0 11
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 5 3 0 0 0 0 10
Wellcome Centre for Mitochondrial Research, Newcastle University 9 0 1 0 0 0 0 10
Center of Genomic medicine, Geneva, University Hospital of Geneva 5 3 2 0 0 0 0 10
Daryl Scott Lab, Baylor College of Medicine 2 2 6 0 0 0 0 10
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 2 8 0 0 0 0 0 10
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 1 5 0 0 0 0 10
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 4 3 3 0 0 0 0 10
Center of Excellence for Medical Genomics, Chulalongkorn University 3 3 4 0 0 0 0 10
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 2 3 3 0 0 9
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 4 5 0 0 0 0 0 9
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 2 6 0 0 0 0 0 8
Division of Human Genetics, Children's Hospital of Philadelphia 2 2 4 0 0 0 0 8
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 4 4 0 0 0 0 0 8
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 5 3 0 0 0 0 0 8
Clinical Genomics Program, Stanford Medicine 0 2 6 0 0 0 0 8
Arcensus 1 3 4 0 0 0 0 8
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 4 2 0 1 0 0 7
Institute of Human Genetics, University of Wuerzburg 0 6 1 0 0 0 0 7
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 0 7 0 0 0 0 0 7
DASA 4 3 0 0 0 0 0 7
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 7 7
KardioGenetik, Herz- und Diabeteszentrum NRW 0 3 4 0 0 0 0 7
Department of Pathophysiology and Transplantation, University of Milan 4 1 1 0 0 0 0 6
Pars Genome Lab 1 0 3 0 2 0 0 6
Lifecell International Pvt. Ltd 2 4 0 0 0 0 0 6
Human Genetics Bochum, Ruhr University Bochum 0 2 4 0 0 0 0 6
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 4 1 0 0 0 5
UCLA Clinical Genomics Center, UCLA 0 5 0 0 0 0 0 5
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 3 2 0 0 0 0 5
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 5 0 0 0 0 0 5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 3 0 0 0 0 5
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 3 1 0 0 0 0 5
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 4 0 0 0 0 5
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 1 2 0 0 0 5
Hadassah Hebrew University Medical Center 0 4 0 0 0 0 0 4
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 4 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 4 0 0 0 0 4
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 2 0 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 1 1 2 0 0 0 0 4
Kids Research, The Children's Hospital at Westmead 2 1 1 0 0 0 0 4
Biochemistry Laboratory of CDMU, Chengde Medical University 2 2 0 0 0 0 0 4
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 1 1 0 0 0 0 4
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 2 2 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 1 0 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 0 2 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 2 0 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 2 1 0 0 0 0 3
Department of Medical Genetics, University Hospital of North Norway 0 0 3 0 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 0 1 0 0 0 0 3
Clinical Genetics Laboratory, Region Ostergotland 1 2 0 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 1 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 3 0 0 0 0 0 3
Institute of Human Genetics, Heidelberg University 1 2 0 0 0 0 0 3
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 3 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 3
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 3 0 0 0 0 3
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 3 0 0 0 0 0 0 3
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 3 0 0 0 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 2 0 0 0 0 3
Pediatric Department, Xiangya Hospital, Central South University 1 2 0 0 0 0 0 3
Department of Pathophysiology and Transplantation, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico 3 0 0 0 0 0 0 3
DECIPHERD-UDD, Universidad del Desarrollo 1 0 2 0 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 1 0 0 0 0 2
Hehr Laboratory, Center for Human Genetics Regensburg 1 1 0 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 1 0 0 0 0 2
Genetics and Personalized Medicine Clinic, Tartu University Hospital 1 1 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 2 0 0 0 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 1 0 0 0 0 0 2
Biochimie Génétique et moléculaire, CHUGA 1 1 0 0 0 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 0 2 0 0 0 0 0 2
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 2 0 0 0 0 0 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 2 0 0 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 0 0 0 0 0 2
Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology 0 1 1 0 0 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 2 0 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 2 0 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 0 0 0 0 2
Department of Toxicogenomics, Maastricht University 0 2 0 0 0 0 0 2
Department of Pediatrics, The University of Tokyo 1 1 0 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 0 0 0 0 0 0 2
Vockley Lab, University of Pittsburgh 2 0 0 0 0 0 0 2
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 1 0 0 0 0 2
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 1 0 0 0 0 0 2
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 1 1 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 0 2
Al Jawhara Center for Molecular Medicine, Arabian Gulf University 0 2 0 0 0 0 0 2
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 2 0 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 0 2
Amsterdam UMC Genome Diagnostics, Amsterdam University Medical Center, Location AMC 1 0 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 0 1 0 0 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 1 0 0 0 0 0 1
UniProtKB/Swiss-Prot 0 0 0 0 0 0 1 1
Blueprint Genetics 1 0 0 0 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 1 0 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 0 1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 1 0 0 0 0 0 0 1
ClinGen Cardiomyopathy Variant Curation Expert Panel 0 0 1 0 0 0 0 1
Department of Immunology, University Hospital Southampton NHSFT 0 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 0 0 0 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 0 0 0 0 0 0 1
Dr. Alfred Bastarche Laboratory, Dr. Georges L. Dumont University Hospital Centre 0 1 0 0 0 0 0 1
Research Center for Molecular Medicine, Hamadan University of medical science 1 0 0 0 0 0 0 1
Genatak 0 1 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 0 1 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 0 1
Mitochondrial Disorders Lab i+12, Hospital Universitario 12 de Octubre 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Emek Medical Center 0 1 0 0 0 0 0 1
Belal Azab Laboratory, The University of Jordan 0 1 0 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 0 1 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 0 0 0 0 0 1
Kowloon West Cluster Laboratory Genetic Service, Princess Margaret Hospital 1 0 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 0 0 1
Genetics, INEBIR 1 0 0 0 0 0 0 1
Rare Disease Group, University of Exeter 0 1 0 0 0 0 0 1
CUBI - Core Unit Bioinformatics, Berlin Institute of Health 0 0 1 0 0 0 0 1
Prenatal Diagnosis Center, Jiangxi Provincial Maternal and Child Care Hospital 0 0 1 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 0 0 1
Molecular Biology Laboratory, Virgen Macarena University Hospital 0 1 0 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 0 1 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 0 1
Pediatrics Department, Azienda Ospedaliero-Universitaria Policlinico San Marco 0 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 0 1
Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitari Son Espases/IbSalut 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 1
Department of Cardiology, The Fifth Hospital of Shanxi Medical University 0 0 1 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 0 1
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 0 1 0 0 0 0 0 1
Genetic Medical Diagnostic Laboratory CellGenetics, GMDL CellGenetics 1 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 0 1
Children's Medical Center, Molecular Pathology and Cytogenetics Lab, Tehran University of Medical Sciences 0 0 1 0 0 0 0 1
Laboratorio de Investigaciones Aplicadas a Neurociencias, Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia 1 0 0 0 0 0 0 1
Laboratorio Biología Molecular, Sanatorio Americano 0 1 0 0 0 0 0 1

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