ClinVar Miner

Variants studied for cerebellar ataxia

Included ClinVar conditions (253):
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 risk factor not provided total
1781 1635 9771 5412 1883 1 1 162 19597

Gene and significance breakdown #

Total genes and gene combinations: 327
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
SYNE1 135 61 2315 1503 227 0 0 4 4054
SACS 137 464 604 165 41 1 0 7 1233
SETX 47 32 495 457 342 0 0 4 1228
KIAA0586 84 35 587 407 56 0 0 2 1168
CYP27A1 148 110 358 454 24 0 0 3 992
CSPP1 76 21 422 277 33 0 0 1 824
ZNF423 1 2 395 352 40 0 0 0 783
WWOX 54 13 301 251 46 0 0 1 661
CEP290 85 42 253 61 21 0 0 2 453
CEP41 13 5 229 113 24 0 0 0 373
TMEM237 26 12 203 113 23 0 0 0 358
TMEM231 32 9 159 126 16 0 0 0 335
AHI1 66 38 174 40 20 0 0 0 320
KCND3 12 13 107 127 24 0 0 0 276
SIL1 23 8 140 98 18 0 0 0 267
ITPR1 12 16 125 47 79 0 0 3 264
MTTP 20 59 116 28 38 0 0 5 248
CC2D2A 51 20 127 11 22 0 0 0 224
SPTBN2 12 20 119 38 21 0 0 2 194
ARFGEF1, CSPP1 8 5 103 66 10 0 0 0 190
COQ8A 32 33 81 16 27 0 0 19 177
RPGRIP1L 9 30 108 30 1 0 0 0 177
DYNC1H1 0 0 77 40 51 0 0 0 168
CAMTA1 21 19 75 30 15 0 0 1 159
FLVCR1 6 5 95 9 47 0 0 1 159
CACNA1A 28 32 48 14 20 0 0 17 148
MAF, WWOX 6 0 80 52 9 0 0 0 146
ATCAY 2 0 97 17 29 0 0 0 145
TTPA 16 43 70 6 10 0 0 15 137
VLDLR 12 11 84 11 15 0 0 5 134
TMEM138 13 3 72 42 6 0 0 0 128
PRKCG 26 22 39 10 18 0 0 15 116
TMEM67 26 15 45 23 2 0 0 0 110
TGM6 8 5 44 21 37 0 0 0 109
TWNK 10 10 69 11 7 0 0 4 100
TTBK2 3 4 47 19 26 0 0 3 99
ANO10 16 12 59 5 11 0 0 0 98
TMEM216 6 28 48 12 13 0 0 1 97
MKS1 7 40 44 3 5 0 0 1 94
CACNA1G 3 13 63 4 9 0 0 1 93
LOC126859837, SYNE1 4 2 44 34 3 0 0 0 86
ATP1A3 8 10 9 11 50 0 0 0 84
PDYN 4 1 52 9 20 0 0 0 83
TDP1 1 1 51 6 23 0 0 0 82
AFG3L2 14 8 29 11 16 0 0 12 81
FGF14 12 2 36 13 17 0 0 0 79
VPS13D 14 11 39 2 1 0 0 1 67
FLVCR2 0 0 42 5 16 0 0 0 63
ESR1, SYNE1 0 0 38 15 9 0 0 0 60
ATP8A2 14 19 19 2 7 0 0 0 59
WDR81 7 8 26 9 8 0 0 2 59
SAMD9L 6 6 43 5 0 0 0 4 55
TPP1 12 4 20 7 7 0 0 2 50
WDR73 12 11 20 7 3 0 0 0 50
APOB 21 0 25 1 0 0 0 0 47
DNMT1 4 3 25 6 6 0 0 1 44
CCDC88C 1 2 19 9 8 0 0 1 40
LOC129997480, SYNE1 1 0 21 18 2 0 0 0 39
PNKP 8 5 21 4 2 0 0 0 38
SNX14 15 11 12 1 0 0 0 2 38
GRM1 9 1 12 7 5 0 0 0 34
ATP2B3 1 2 16 2 12 0 0 0 33
JMJD8, STUB1 11 11 9 1 1 0 0 0 32
KCNC3 4 2 16 8 4 0 0 0 32
PCSK9 0 0 29 3 0 0 0 0 32
LOC126859838, SYNE1 2 0 14 16 0 0 0 0 31
FAT2, SLC36A1 2 0 16 2 11 0 0 0 29
ABCB7 5 2 11 2 6 0 0 2 26
PUM1 4 4 14 1 3 0 0 1 26
GRID2 10 3 10 0 2 0 0 0 25
RFC1 10 3 2 0 5 0 0 4 23
CPLANE1 10 12 0 0 0 0 0 0 22
CWF19L1 9 10 3 0 1 0 0 0 22
RNF168 3 3 6 1 9 0 0 0 22
LOC130009366, SACS 0 6 12 7 1 0 0 0 21
PIK3R5 1 0 9 0 11 0 0 1 21
SCYL1 14 4 3 1 0 0 0 0 21
STUB1 12 7 6 0 0 0 0 0 20
LOC130059440, TMEM231 3 1 8 6 1 0 0 0 19
FAT2 0 1 3 1 12 0 0 0 17
RUBCN 2 2 12 0 1 0 0 0 17
CEP290, RLIG1 3 6 7 0 0 0 0 0 16
CTDP1 1 0 7 2 6 0 0 1 16
LOC126859836, SYNE1 0 0 7 6 4 0 0 0 16
LOC129935417, TMEM237 0 0 10 3 3 0 0 0 16
APTX 0 0 10 2 3 0 0 0 15
ITPR1, LOC126806590 3 4 5 0 4 0 0 0 15
PMPCA 4 1 8 0 2 0 0 0 15
AFG3L2, TUBB6 0 0 9 0 5 0 0 0 14
LOC126860782, SETX 0 0 4 7 5 0 0 0 14
MME 5 1 4 2 0 0 0 1 13
SLC9A1 2 1 6 1 3 0 0 0 13
TMEM240 6 3 6 0 1 0 0 0 13
ATG7 6 1 6 0 1 0 0 0 12
CA8 5 3 0 0 4 0 0 0 12
EEF2 1 1 7 0 2 0 0 1 12
LOC126862019, TDP1 0 0 9 1 3 0 0 0 12
XRCC1 2 1 5 0 4 0 0 0 12
ELOVL5 2 0 7 1 0 0 0 3 11
FXN 6 4 0 1 0 0 0 0 11
INPP5E 3 8 0 0 0 0 0 0 11
PRDX3 10 2 1 0 0 0 0 0 11
ATXN2 0 0 3 3 2 0 1 1 10
VWA3B 2 1 4 0 4 0 0 0 10
​intergenic 7 1 1 0 1 0 0 0 9
ANO10, LOC129936579 0 0 8 0 1 0 0 0 9
ARL13B 0 9 0 0 0 0 0 0 9
CEP104 2 7 0 0 0 0 0 0 9
SACS, SGCG 0 0 0 8 1 0 0 0 9
CAMTA1, LOC126805603 1 0 5 1 0 0 0 1 8
ELOVL4 3 1 2 1 1 0 0 0 8
NPHP1 3 5 0 0 0 0 0 0 8
TCTN1 2 6 0 0 0 0 0 0 8
TCTN2 3 5 0 0 0 0 0 0 8
VPS41 6 1 1 0 0 0 0 0 8
ATN1, LOC109461484 2 0 0 3 2 0 0 0 7
DYNC1H1, LOC126862060 0 0 4 2 1 0 0 0 7
LOC126860792, PMPCA 2 0 4 1 0 0 0 0 7
NPTX1 4 2 1 0 0 0 0 0 7
TRPC3 2 0 4 0 1 0 0 0 7
ATXN1, LOC108663993 1 0 1 2 2 0 0 0 6
ATXN10, LOC107181287, LOC108660404 4 0 0 0 1 0 0 1 6
CACNA1A, LOC108663985 1 0 0 2 3 0 0 0 6
DAB1 1 0 4 0 1 0 0 0 6
DNMT1, LOC126862853 0 1 3 2 0 0 0 0 6
DYNC1H1, LOC125078040 0 0 3 1 2 0 0 0 6
FAT1 0 0 6 0 0 0 0 0 6
GDAP2 3 2 1 0 0 0 0 0 6
LOC126807124, MTTP 0 1 4 1 2 0 0 0 6
NPHP3, NPHP3-ACAD11 1 5 0 0 0 0 0 0 6
NPHP3-ACAD11, UBA5 3 2 0 0 1 0 0 0 6
PNPT1 3 1 2 0 0 0 0 0 6
TDP2 5 1 0 0 0 0 0 0 6
ATXN10 0 0 4 1 0 0 0 0 5
ATXN7 1 0 3 0 1 0 0 0 5
B9D2 1 4 0 0 0 0 0 0 5
FLVCR1, LOC129932486 0 0 4 0 1 0 0 0 5
FXN, LOC130001862 2 1 1 0 1 0 0 0 5
KIF14 0 5 0 0 0 0 0 0 5
LOC108663996, TBP 2 0 1 1 1 0 0 0 5
LOC129994751, SIL1 0 0 4 1 0 0 0 0 5
LOC130061271, MKS1 0 3 1 1 0 0 0 0 5
PITRM1 3 0 2 0 0 0 0 0 5
ZNF592 0 0 3 0 2 0 0 0 5
ATP1A3, LOC130064543 0 0 3 0 1 0 0 0 4
ATXN1 0 0 2 1 1 0 0 0 4
ATXN3, LOC108663987 2 0 0 0 2 0 0 0 4
CHUK-DT, CWF19L1 0 1 2 0 1 0 0 0 4
COA7 2 1 1 0 0 0 0 0 4
FMR1 1 1 0 0 2 0 0 0 4
ITPR1, LOC129936059 0 0 3 0 1 0 0 0 4
KIF26B 1 0 3 0 0 0 0 0 4
LOC126860783, SETX 0 0 3 0 1 0 0 0 4
SYT14 1 0 1 1 2 0 0 0 4
ATN1 1 1 1 0 0 0 0 0 3
ATXN2, LOC130008791 1 0 0 2 1 0 0 0 3
ATXN2, LOC130008792 0 0 1 0 2 0 0 0 3
ATXN7, LOC108660406, LOC129936979 1 0 1 0 1 0 0 0 3
CEP290, LOC129390514 1 0 1 1 0 0 0 0 3
COA7, LOC129388524 3 0 0 0 0 0 0 0 3
KCNC3, LOC111811967 1 0 2 0 0 0 0 0 3
LOC109504727, LOC130065308, NOP56 2 0 0 0 1 0 0 0 3
LOC130001468, VLDLR 0 0 0 1 2 0 0 0 3
NOP56 0 1 2 0 0 0 0 0 3
PLD3 1 0 3 0 0 0 0 0 3
PLD3, PRX 2 0 0 0 1 0 0 0 3
PMM2 2 2 0 0 0 0 0 0 3
TCTN3 3 0 0 0 0 0 0 0 3
THG1L 0 0 1 0 2 0 0 0 3
ABCB7, LOC130068449 0 0 1 0 1 0 0 0 2
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231 1 0 1 0 0 0 0 0 2
ADCY7, BRD7, CNEP1R1, CYLD, HEATR3, NKD1, NOD2, SALL1, SNX20, TENT4B, ZNF423 0 0 2 0 0 0 0 0 2
APOB, APOB3'MAR 0 0 2 0 0 0 0 0 2
ATM 2 0 0 0 0 0 0 0 2
B9D1 0 2 0 0 0 0 0 0 2
BEAN1 1 0 0 0 1 0 0 0 2
CACNA1A, LOC126862865 0 1 0 1 0 0 0 0 2
COQ8A, LOC129932681 0 0 2 0 0 0 0 0 2
EEF2, LOC130063169 0 0 1 0 1 0 0 0 2
FGF14, ITGBL1 1 0 1 0 0 0 0 0 2
FXN, LOC108510657 2 0 0 0 0 0 0 0 2
HARS1 2 0 0 0 0 0 0 0 2
IFT140 2 0 0 0 0 0 0 0 2
JMJD8, RHBDL1, STUB1, WDR24 0 0 2 0 0 0 0 0 2
KCNN2, LOC101927078 1 1 0 0 0 0 0 0 2
LOC112486209, LOC132090435, WWOX 1 1 0 0 0 0 0 0 2
LOC129937586, NPHP3, NPHP3-ACAD11 0 2 0 0 0 0 0 0 2
LOC129995144, THG1L 1 1 1 0 0 0 0 0 2
LOC130003010, PMPCA 1 0 1 0 0 0 0 0 2
LOC130004408, TCTN3 0 2 0 0 0 0 0 0 2
MT-ATP6 0 2 0 0 0 0 0 0 2
MTCL1 1 0 1 0 0 0 0 0 2
NCDN 0 2 0 0 0 0 0 0 2
NPC1 2 0 0 0 0 0 0 0 2
PDE1B 0 0 2 0 0 0 0 0 2
PEX6 2 0 0 0 0 0 0 0 2
PNPLA6 0 2 0 0 0 0 0 0 2
PPP2R2B 0 0 2 0 0 0 0 0 2
STXBP1 1 1 0 0 0 0 0 0 2
SUMF1 0 1 1 0 0 0 0 0 2
SURF1 1 1 0 0 0 0 0 0 2
AADACL3, AADACL4, CFAP107, DHRS3, MFN2, MIIP, PLOD1, PRAMEF1, PRAMEF11, PRAMEF12, TNFRSF1B, TNFRSF8, VPS13D 0 0 1 0 0 0 0 0 1
ADORA2A, C22orf15, CABIN1, CHCHD10, DDT, DDTL, DERL3, DRICH1, GGT1, GGT5, GSTT1, GSTT2, GSTT2B, GUCD1, IGLL1, LRRC75B, MIF, MMP11, RGL4, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SUSD2, UPB1, VPREB3, ZNF70 0 0 1 0 0 0 0 0 1
AGPAT5, ANGPT2, ARHGEF10, BLK, C8orf74, CLDN23, CLN8, CSMD1, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, DLGAP2, ERI1, ERICH1, FAM167A, FBXO25, KBTBD11, MCPH1, MFHAS1, MIR124-1, MSRA, MTMR9, MYOM2, PINX1, PPP1R3B, PRSS51, PRSS55, RP1L1, SLC35G5, SOX7, SPAG11A, SPAG11B, TDRP, TNKS, USP17L1, USP17L3, USP17L4, USP17L8, XKR5, XKR6, ZNF596, ZNF705B, ZNF705G 1 0 0 0 0 0 0 0 1
ALS2, MPP4, TMEM237 1 0 0 0 0 0 0 0 1
ARFGEF1, COPS5, CSPP1, MCMDC2, PPP1R42, SNHG6, SNORD87, TCF24 0 0 1 0 0 0 0 0 1
ARFGEF1, CPA6, CSPP1 1 0 0 0 0 0 0 0 1
ARID4A, KIAA0586, PSMA3, TIMM9, TOMM20L 1 0 0 0 0 0 0 0 1
ATG5 1 0 0 0 0 0 0 0 1
ATG7, LOC126806603 1 0 0 0 0 0 0 0 1
ATM, C11orf65 1 0 0 0 0 0 0 0 1
ATMIN, BCO1, C16orf46, CDYL2, CENPN, CMC2, CMIP, DYNLRB2, GAN, GCSH, MAF, PKD1L2, PLCG2, WWOX 1 0 0 0 0 0 0 0 1
ATP6V0A1 1 0 0 0 0 0 0 0 1
ATXN10, LOC130067689 0 0 1 0 0 0 0 0 1
ATXN2, LOC130008791, LOC130008792 1 0 0 0 0 0 0 1 1
ATXN3 0 0 0 0 0 0 0 1 1
ATXN8, ATXN8OS 1 0 0 0 0 0 0 0 1
ATXN8, ATXN8OS, LOC109461478 0 0 0 0 1 0 0 0 1
ATXN8OS 0 1 0 0 0 0 0 0 1
C2CD6, LOC129935416, LOC129935417, MPP4, TMEM237 1 0 0 0 0 0 0 0 1
C2CD6, MPP4, STRADB, TMEM237 0 0 1 0 0 0 0 0 1
C2CD6, TMEM237 1 0 0 0 0 0 0 0 1
CACNA1A, LOC126862864 1 1 0 0 0 0 0 0 1
CACNA1A, LOC126862866 0 0 0 1 0 0 0 0 1
CAMTA1, LOC129929266 0 0 0 1 0 0 0 0 1
CAPRIN1 0 0 1 0 0 0 0 0 1
CAV3, OXTR 0 0 1 0 0 0 0 0 1
CCDC88C, LOC130056326 0 0 0 0 1 0 0 0 1
CDC42BPA, COQ8A, LOC126806036, LOC129388764, LOC129932683 1 0 0 0 0 0 0 0 1
CDH1 0 0 0 1 0 0 0 0 1
CEP104, LOC126805586 0 1 0 0 0 0 0 0 1
CHST5, CHST6, TMEM170A, TMEM231 1 0 0 0 0 0 0 0 1
CHST5, CHST6, TMEM231 1 0 0 0 0 0 0 0 1
CIZ1, DNM1 0 1 0 0 0 0 0 0 1
CLCN2 0 0 1 0 0 0 0 0 1
CLEC3A, VAT1L, WWOX 0 0 0 1 0 0 0 0 1
COPS5, CSPP1, PPP1R42 0 0 1 0 0 0 0 0 1
COQ4 1 0 0 0 0 0 0 0 1
COQ8A, LOC129932682 0 0 0 1 1 0 0 0 1
CSMD1, LOC105377785 1 0 0 0 0 0 0 0 1
CSNK1E, TPTEP2-CSNK1E 0 0 1 0 0 0 0 0 1
CYP27A1, PRKAG3, WNT6 1 0 0 0 0 0 0 0 1
DAGLA, MYRF 0 1 0 0 0 0 0 0 1
DYNC1H1, LOC130056502 0 0 1 0 0 0 0 0 1
EGOT, ITPR1 0 1 0 0 0 0 0 0 1
EGOT, ITPR1, ITPR1-DT, LOC112935932, LOC122889020, LOC122889021, LOC129936059, LOC129936060, LOC129936061, LOC129936062, LOC129936063, LOC129936064, LOC129936065, LOC129936066 1 0 0 0 0 0 0 0 1
EIF2A 0 0 1 0 0 0 0 0 1
ELF2 0 1 0 0 0 0 0 0 1
ENG 0 0 0 0 1 0 0 0 1
EP300 0 0 1 0 0 0 0 0 1
ESR1, FBXO5, LINC02840, LOC105378066, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC129389688, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, MTRF1L, MYCT1, RGS17, SYNE1, VIP 1 0 0 0 0 0 0 0 1
ESR1, LOC129389688, LOC129997477, LOC129997478, SYNE1 0 0 1 0 0 0 0 0 1
FAT1, LOC126807255 0 0 1 0 0 0 0 0 1
FAT2, LOC132089193, SLC36A1 0 0 0 0 1 0 0 0 1
FBXO5, MTRF1L, MYCT1, OPRM1, RGS17, SYNE1, VIP 1 0 0 0 0 0 0 0 1
FGF14, LOC124946331, MIR2681 0 1 0 0 0 0 0 0 1
FH 1 0 0 0 0 0 0 0 1
FLNC 1 0 0 0 0 0 0 0 1
FLVCR1, LOC129932485 0 0 1 0 0 0 0 0 1
FMR1, FRAXA, LOC107032825, LOC129929053 1 0 0 0 0 0 0 0 1
FMR1, LOC107032825 0 0 0 1 0 0 0 0 1
FZR1 0 0 1 0 0 0 0 0 1
GACAT2, MTCL1 0 0 0 0 1 0 0 0 1
GBA2 0 0 1 0 0 0 0 0 1
GJA3 1 0 0 0 0 0 0 0 1
GJB1 0 0 1 0 0 0 0 0 1
GRM1, LOC126859821 0 0 0 0 0 0 0 1 1
IFT140, LOC105371046 1 0 0 0 0 0 0 0 1
IFT140, LOC126862260 1 0 0 0 0 0 0 0 1
ITPR1, ITPR1-DT, LOC112935931, LOC112935932, LOC121725127, LOC122889019, LOC122889020, LOC129936053, LOC129936054, LOC129936055, LOC129936056, LOC129936057, LOC129936058, LOC129936059, LOC129936060, LOC129936061, LOC129936062, LOC129936063, SETMAR, SUMF1 1 0 0 0 0 0 0 0 1
KCNA6 0 1 0 0 0 0 0 0 1
KCNC3, LOC130064972 0 0 1 0 0 0 0 0 1
KCNJ10 1 0 0 0 0 0 0 0 1
KCNN2 1 0 0 0 0 0 0 0 1
KIF1C 1 0 0 0 0 0 0 0 1
KIF7 0 1 0 0 0 0 0 0 1
L1CAM 0 0 1 0 0 0 0 0 1
LAMA4 0 0 1 0 0 0 0 0 1
LOC108660405, PPP2R2B 0 0 0 0 1 0 0 0 1
LOC110120570, LOC112486209, LOC121587562, LOC125177355, LOC132090428, LOC132090429, LOC132090430, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 0 0 1
LOC110120570, LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 0 0 1
LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 0 0 1
LOC113174982, TDP2 0 0 1 0 0 0 0 0 1
LOC125446261, MLC1 0 1 0 0 0 0 0 0 1
LOC126805680, PUM1 0 0 1 0 0 0 0 0 1
LOC126806082, SMYD3 0 0 1 0 0 0 0 0 1
LOC126806462, SATB2 1 0 0 0 0 0 0 0 1
LOC130001468, LOC130001469, LOC130001470, LOC130001471, LOC130001472, VLDLR 1 0 0 0 0 0 0 0 1
LOC130001471, VLDLR 0 0 0 0 1 0 0 0 1
LOC130009365, LOC130009366, LOC130009367, LOC130009368, LOC130009369, SACS 1 0 0 0 0 0 0 0 1
LOC132090428, LOC132090429, WWOX 0 0 1 0 0 0 0 0 1
LOC132090432, LOC132090433, LOC132090434, WWOX 1 0 0 0 0 0 0 0 1
LRCH2 1 0 0 0 0 0 0 0 1
LRRCC1 0 1 0 0 0 0 0 0 1
MFN2 0 1 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 0 0 0 0 0 0 1
MT-CO3 0 0 1 0 0 0 0 0 1
MT-CYB 0 0 1 0 0 0 0 0 1
MT-TE 1 0 0 0 0 0 0 0 1
NID1 0 0 1 0 0 0 0 0 1
NPHP3 0 1 0 0 0 0 0 0 1
OBI1, POU4F1 0 0 1 0 0 0 0 0 1
OFD1 1 0 0 0 0 0 0 0 1
OPA1 1 0 0 0 0 0 0 0 1
PCDH12, RNF14 0 1 0 0 0 0 0 0 1
PLA2G6 1 0 0 0 0 0 0 0 1
PLEKHG4 0 0 1 0 0 0 0 0 1
POLG, POLGARF 0 0 0 0 1 0 0 0 1
POMT1 0 0 1 0 0 0 0 0 1
PRDM16 0 0 1 0 0 0 0 0 1
PTRH2 0 1 0 0 0 0 0 0 1
RNU12 1 0 0 0 0 0 0 0 1
RPE65 0 0 0 0 1 0 0 0 1
SCN8A 0 1 0 0 0 0 0 0 1
SEPSECS 0 1 0 0 0 0 0 0 1
SEPTIN11 0 0 1 0 0 0 0 0 1
SLC2A1 1 0 0 0 0 0 0 0 1
SMAD6 0 0 1 0 0 0 0 0 1
SOS1 0 0 0 0 1 0 0 0 1
SPART 0 1 0 0 0 0 0 0 1
SYNGAP1 0 1 0 0 0 0 0 0 1
TBP 0 0 1 0 0 0 0 0 1
TLN1 0 0 1 0 0 0 0 0 1
UNC13A 0 1 0 0 0 0 0 0 1
VPS39 0 0 1 0 0 0 0 0 1
ZFHX3 1 0 0 0 0 0 0 0 1
ZNF236 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 240
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 545 126 5293 4384 846 0 0 0 11194
Illumina Laboratory Services, Illumina 8 10 2509 467 737 0 0 0 3710
Fulgent Genetics, Fulgent Genetics 136 89 636 303 19 0 0 0 1183
Genome-Nilou Lab 39 40 243 169 486 0 0 0 977
Baylor Genetics 156 294 253 0 0 0 0 0 702
Natera, Inc. 58 8 373 125 74 0 0 0 638
OMIM 453 1 6 0 4 0 1 0 465
Counsyl 16 270 127 11 2 0 0 0 426
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 142 165 0 0 0 0 0 0 307
Revvity Omics, Revvity 42 42 198 0 0 0 0 0 282
GeneReviews 85 0 0 0 8 0 0 104 197
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 34 33 76 2 1 0 0 0 144
UW Hindbrain Malformation Research Program, University of Washington 120 3 0 0 0 0 0 0 123
Myriad Genetics, Inc. 10 111 1 0 0 0 0 0 122
Neuberg Centre For Genomic Medicine, NCGM 12 25 74 0 0 0 0 0 111
Centre for Mendelian Genomics, University Medical Centre Ljubljana 26 17 57 4 3 0 0 0 107
3billion 33 32 30 7 0 0 0 0 102
New York Genome Center 6 5 88 0 0 0 0 0 99
Institute of Human Genetics, University of Leipzig Medical Center 22 16 39 4 2 0 0 0 83
Mendelics 24 18 12 7 17 0 0 0 78
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 31 30 16 0 0 0 0 0 77
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 4 14 56 0 0 0 76
Genomic Research Center, Shahid Beheshti University of Medical Sciences 16 6 48 3 2 0 0 0 75
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 1 4 24 44 0 0 0 74
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 43 22 7 0 1 0 0 0 73
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 23 12 34 2 0 0 0 0 71
O&I group, Department of Genetics, University Medical Center of Groningen 15 9 34 0 0 0 0 0 58
PreventionGenetics, part of Exact Sciences 1 2 23 23 6 0 0 0 55
Genetic Services Laboratory, University of Chicago 33 18 0 0 0 0 0 0 51
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 32 18 0 0 0 0 0 0 50
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 7 18 19 0 4 0 0 0 48
Solve-RD Consortium 0 44 0 0 0 0 0 0 44
Molecular Genetics, Royal Melbourne Hospital 4 6 21 2 8 0 0 0 41
Centogene AG - the Rare Disease Company 6 7 22 1 0 0 0 0 36
MGZ Medical Genetics Center 7 11 15 0 0 0 0 0 33
Wendy Chung Laboratory, Columbia University Medical Center 13 20 0 0 0 0 0 0 33
GenomeConnect, ClinGen 0 0 0 0 0 0 0 32 32
Genomics England Pilot Project, Genomics England 8 20 1 0 0 0 0 0 29
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 15 1 10 0 0 0 26
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 22 3 0 0 0 0 26
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 7 17 0 0 0 25
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 9 12 2 0 0 0 0 0 23
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 11 4 8 0 0 0 0 0 23
Genetics and Molecular Pathology, SA Pathology 9 10 3 0 0 0 0 0 22
Paris Brain Institute, Inserm - ICM 22 0 0 0 0 0 0 0 22
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 3 14 0 0 0 0 0 21
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 10 7 0 0 0 0 0 20
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 4 11 0 0 0 0 0 19
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 7 9 2 0 0 0 0 0 18
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 18 18
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 6 3 8 0 0 0 0 0 17
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 6 10 0 0 0 0 0 17
Institute of Human Genetics, University of Goettingen 2 3 9 1 0 0 0 0 15
Johns Hopkins Genomics, Johns Hopkins University 1 4 10 0 0 0 0 0 15
Institute of Human Genetics, University Hospital of Duesseldorf 6 0 8 0 0 0 0 0 14
Undiagnosed Diseases Network, NIH 8 5 1 0 0 0 0 0 14
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 3 6 5 0 0 0 0 0 14
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 6 3 4 0 0 0 14
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 9 0 0 0 0 0 0 13
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 12 0 0 0 0 0 13
Schule lab, Hertie Institute for Clinical Brain Research 5 0 0 7 0 0 0 0 12
Medical Genetics Laboratory, Tarbiat Modares University 9 1 2 0 0 0 0 0 12
UCLA Clinical Genomics Center, UCLA 0 11 0 0 0 0 0 0 11
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 4 7 0 0 0 0 0 11
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 3 7 0 0 0 0 0 11
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 5 1 0 0 0 0 0 11
Pars Genome Lab 1 0 2 6 2 0 0 0 11
MVZ Medizinische Genetik Mainz 2 0 9 0 0 0 0 0 11
Suma Genomics, Suma Genomics 3 2 5 0 0 0 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 3 0 0 0 0 0 0 9
Mayo Clinic Laboratories, Mayo Clinic 0 0 9 0 0 0 0 0 9
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 5 0 1 0 0 0 0 9
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 1 2 0 0 0 0 0 9
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 3 1 0 0 0 0 0 9
SIB Swiss Institute of Bioinformatics 0 3 4 0 2 0 0 0 9
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 1 5 0 0 0 0 0 9
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 4 0 0 0 0 0 0 8
NIHR Bioresource Rare Diseases, University of Cambridge 6 3 0 0 0 0 0 0 8
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 5 3 0 0 0 8
Kids Neuroscience Centre, Sydney Children's Hospitals Network 3 4 1 0 0 0 0 0 8
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 5 2 1 0 0 0 0 0 8
Athena Diagnostics 0 0 0 0 7 0 0 0 7
Service de Génétique Moléculaire, Hôpital Robert Debré 1 2 0 4 0 0 0 0 7
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 5 2 0 0 0 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 7 7
Institute of Human Genetics, Cologne University 5 1 0 0 0 0 0 0 6
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 2 0 0 0 0 0 0 6
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 5 1 0 0 0 0 0 6
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 0 4 0 1 0 0 0 6
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 3 0 0 0 0 0 6
Codex Genetics Limited 5 1 0 0 0 0 0 0 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 5 0 0 0 0 0 6
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 3 0 0 0 0 0 6
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 2 2 0 0 0 0 0 5
Hadassah Hebrew University Medical Center 0 5 0 0 0 0 0 0 5
Institute of Human Genetics, University of Wuerzburg 0 3 2 0 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 4 0 0 0 0 0 5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 5 0 0 0 0 0 0 0 5
Breda Genetics srl 2 0 3 0 0 0 0 0 5
Department of Biochemistry, Faculty of Medicine, University of Khartoum 2 2 1 0 0 0 0 0 5
Laboratory of Genetics in Ophthalmology, Institut Imagine 4 0 1 0 0 0 0 0 5
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 2 1 2 0 0 0 0 5
Institute of Immunology and Genetics Kaiserslautern 2 1 2 0 0 0 0 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 3 1 0 0 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 2 2 0 0 0 0 0 4
Research Group Niklas Dahl, Uppsala University 2 2 0 0 0 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 3 1 0 0 0 0 0 4
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 4 0 0 0 0 0 0 0 4
Taipei Veterans General Hospital, Neurological Institute 4 0 0 0 0 0 0 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 2 0 0 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 3 1 0 0 0 0 0 0 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 2 0 0 0 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 2 1 0 0 0 0 0 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 3 0 0 0 0 0 0 4
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 1 3 0 0 0 0 0 0 4
Lifecell International Pvt. Ltd 2 2 0 0 0 0 0 0 4
DASA 3 1 0 0 0 0 0 0 4
Department of Human Genetics, Hannover Medical School 1 1 2 0 0 0 0 0 4
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 3 0 0 0 0 0 0 4
Breakthrough Genomics, Breakthrough Genomics 3 1 0 0 0 0 0 0 4
Dr.Nikuei Genetic Center 1 1 0 0 2 0 0 0 4
Neurogenetics Research; Murdoch Childrens Research Institute 3 0 0 0 0 0 0 0 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 3 0 0 0 0 0 0 3
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 3 0 0 0 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 2 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 0 0 0 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 1 0 1 1 0 0 0 0 3
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 3 0 0 0 0 0 0 3
TIDEX, University of British Columbia 2 0 1 0 0 0 0 0 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 2 0 0 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 2 0 1 0 0 0 0 0 3
Institute of Human Genetics, Heidelberg University 1 2 0 0 0 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 1 0 0 0 1 0 0 3
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 0 0 0 3
Institute for Human Genetics, University Hospital Essen 2 1 0 0 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 0 1 1 1 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 2 0 1 0 0 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 0 1 2 0 0 0 0 0 3
Palindrome, Gene Kavoshgaran Aria 3 0 0 0 0 0 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 3 0 0 0 3
King Laboratory, University of Washington 1 1 0 0 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 0 0 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 1 0 0 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Ulm 0 2 0 0 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 2 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 2 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 2 0 0 0 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 1 1 0 0 0 0 0 2
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 0 1 0 0 0 0 0 2
Applied Translational Genetics Group, University of Auckland 2 0 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 1 1 0 0 0 0 0 2
Reproductive Development, Murdoch Childrens Research Institute 2 0 0 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 0 0 0 2
Human Genetics Laboratory, Faculty of Medicine of Tunis 0 2 0 0 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 0 1 1 0 0 0 0 0 2
Institute of Bioinformatics 1 1 0 0 0 0 0 0 2
University of Iowa Renal Genetics Clinic, University of Iowa 0 2 0 0 0 0 0 0 2
Genome Medicine, Institute for Basic Research in Developmental Disabilities 1 1 0 0 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 0 0 2
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 2 0 0 0 0 0 2
CMT Laboratory, Bogazici University 1 0 1 0 0 0 0 0 2
Joe DiMaggio Children's Hospital, Memorial Healthcare System 2 0 0 0 0 0 0 0 2
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 1 1 0 0 0 0 0 0 2
Molecular Genetics of Human Eye Development, Oxford Brookes University 2 0 0 0 0 0 0 0 2
Movement Disorders Program, Boston Children's Hospital 0 1 1 0 0 0 0 0 2
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 1 1 0 0 0 0 0 0 2
Pangenia Genomics, Pangenia Inc. 0 1 1 0 0 0 0 0 2
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 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 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 0 1
Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO) 0 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 0 1
Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong 1 0 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 0 0 1
Institute of Experimental Medicine, Department of Genetics, Istanbul University 1 0 0 0 0 0 0 0 1
Department Of Medical Genetics, Faculty Of Medicine, Ege University 1 0 0 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 0 0 1
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 0 0 1
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 0 1 0 0 0 0 0 0 1
Manipal Hospitals, Manipal Hospital 0 1 0 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 0 0 1
Division of Genomics, Kyushu university 1 0 0 0 0 0 0 0 1
Genetics of Cognitive Dysfunction Laboratory, I3S-IBMC, University of Porto 1 0 0 0 0 0 0 0 1
Medical Institute of Bioregulation, Kyushu university 1 0 0 0 0 0 0 0 1
University of Uludag Hospital, Genetic Diseases Diagnostic Center, University of Uludag 0 1 0 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 1 0 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 0 0 0 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 0 0 0 1
Neurology Laboratory, National Cheng Kung University Hospital 1 0 0 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 0 0 1
Institute of Genomic Medicine, Catholic University 0 0 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 0 0 1
Neurogenetics, IRCCS Istituto delle Scienze Neurologiche di Bologna 1 0 0 0 0 0 0 0 1
Molecular Medicine, University of Pavia 1 0 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 0 0 0 0 0 0 1
Fundacion Diagnosis 0 1 0 0 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 0 0 1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine 0 1 0 0 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 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 1
School of Computer Science, University of Waterloo 1 0 0 0 0 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 1 0 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 0 0 1
Neurology Department, Shenzhen Children's Hospital 1 0 0 0 0 0 0 0 1
General Neurology and Ataxia Unit, Universidade Federal de Sao Paulo - Escola Paulista de Medicina 0 1 0 0 0 0 0 0 1
Credence Genomics 1 0 0 0 0 0 0 0 1
Angen Gene Medicine Technology 0 1 0 0 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 1 0 0 0 0 0 0 1
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University 1 0 0 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 0 0 1
Department of Endocrinology and Metabolism, Dushu Lake Hospital Affiliated to Soochow University 0 0 1 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 1 0 0 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 0 0 0 0 0 0 1
Department of Rehabilitation Medicine, Chungnam National University Hospital 1 0 0 0 0 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 1 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 0 0 0 1

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