ClinVar Miner

Variants studied for cerebellar degeneration

Included ClinVar conditions (263):
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
4079 2952 18085 10046 2168 1 1 214 35704

Gene and significance breakdown #

Total genes and gene combinations: 348
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
ATM 1337 442 4364 2549 147 0 0 23 8441
ATM, C11orf65 795 278 2675 1493 96 0 0 28 5122
SYNE1 148 74 2380 1707 228 0 0 4 4343
SETX 53 32 549 516 381 0 0 4 1368
SACS 147 560 610 165 41 1 0 7 1326
KIAA0586 86 39 600 476 57 0 0 2 1257
CYP27A1 155 121 358 482 24 0 0 3 1030
CSPP1 85 23 421 320 33 0 0 1 876
ZNF423 1 2 396 384 40 0 0 0 816
CEP290 111 132 473 63 21 0 0 2 788
WWOX 56 15 299 282 46 0 0 1 694
AHI1 69 83 289 43 20 0 0 0 480
CC2D2A 60 79 276 13 22 0 0 0 435
TMEM237 26 17 231 127 23 0 0 0 401
TMEM231 35 20 201 144 16 0 0 0 399
CEP41 16 6 231 117 24 0 0 0 382
RPGRIP1L 12 89 237 33 1 0 0 0 368
KCND3 12 13 125 153 24 0 0 0 317
SIL1 24 9 140 117 18 0 0 0 288
ITPR1 13 21 133 47 79 0 0 3 276
MTTP 20 69 116 28 38 0 0 5 257
TMEM67 34 49 120 24 2 0 0 0 220
ARFGEF1, CSPP1 9 5 103 80 10 0 0 0 205
SPTBN2 13 21 125 38 21 0 0 2 202
COQ8A 34 34 82 16 27 0 0 19 179
MKS1 9 55 114 3 5 0 0 1 179
CAMTA1 22 20 88 30 15 0 0 1 174
DYNC1H1 0 0 77 40 51 0 0 0 168
FLVCR1 12 6 95 9 47 0 0 1 166
CACNA1A 31 33 55 14 20 0 0 17 158
TMEM138 14 10 93 44 6 0 0 0 153
MAF, WWOX 6 0 81 56 9 0 0 0 151
ATCAY 2 0 97 17 29 0 0 0 145
VLDLR 14 17 85 11 15 0 0 5 142
TTPA 16 48 69 6 10 0 0 15 141
PRKCG 26 24 41 10 18 0 0 15 119
WDR73 12 15 83 9 3 0 0 0 119
TMEM216 6 30 65 13 13 0 0 1 117
ANO10 18 26 60 5 11 0 0 0 112
TGM6 8 5 46 21 37 0 0 0 110
CACNA1G 3 16 71 4 9 0 0 1 104
TWNK 10 11 71 11 7 0 0 4 103
TTBK2 3 4 48 19 26 0 0 3 100
ATP1A3 10 12 12 11 50 0 0 0 91
LOC126859837, SYNE1 4 2 43 37 3 0 0 0 88
PDYN 4 1 52 9 20 0 0 0 83
AFG3L2 15 8 29 11 16 0 0 12 82
SAMD9L 5 9 68 5 0 0 0 4 82
TDP1 1 1 51 6 23 0 0 0 82
FGF14 12 2 36 13 17 0 0 0 79
CCDC88C 2 30 29 9 8 0 0 1 78
TPP1 19 25 22 7 7 0 0 2 78
VPS13D 14 11 42 2 1 0 0 1 70
FLVCR2 0 0 42 5 16 0 0 0 63
WDR81 7 9 29 9 8 0 0 2 62
ESR1, SYNE1 0 0 38 16 9 0 0 0 61
ATP8A2 14 19 19 2 7 0 0 0 59
APOB 21 0 25 1 0 0 0 0 47
DNMT1 4 3 26 6 6 0 0 1 45
LOC129997480, SYNE1 1 0 22 21 2 0 0 0 43
SNX14 15 13 14 1 0 0 0 2 42
PNKP 8 5 24 4 2 0 0 0 41
GRM1 9 1 15 7 5 0 0 0 37
ATP2B3 1 2 17 2 12 0 0 0 34
JMJD8, STUB1 11 11 12 1 1 0 0 0 34
LOC126859838, SYNE1 2 0 14 19 0 0 0 0 34
KCNC3 4 2 17 8 4 0 0 0 33
CEP290, RLIG1 5 8 19 1 0 0 0 0 32
PCSK9 0 0 29 3 0 0 0 0 32
PUM1 4 6 18 1 3 0 0 1 31
FAT2, SLC36A1 2 0 17 2 11 0 0 0 30
ABCB7 5 2 11 2 6 0 0 2 26
GRID2 10 3 11 0 2 0 0 0 26
LOC130009366, SACS 0 10 12 7 1 0 0 0 25
RFC1 11 3 2 0 5 0 0 4 24
RNF168 3 5 6 1 9 0 0 0 24
SCYL1 15 6 3 1 0 0 0 0 24
CPLANE1 11 12 0 0 0 0 0 0 23
CWF19L1 9 10 4 0 1 0 0 0 23
STUB1 12 8 7 0 0 0 0 0 22
PIK3R5 1 0 9 0 11 0 0 1 21
LOC130059440, TMEM231 3 1 9 6 1 0 0 0 20
CTDP1 1 0 10 2 6 0 0 1 19
LOC129935417, TMEM237 0 3 11 3 3 0 0 0 19
FAT2 0 1 3 1 12 0 0 0 17
MME 5 2 7 2 0 0 0 1 17
RUBCN 2 2 12 0 1 0 0 0 17
LOC126859836, SYNE1 0 0 7 6 4 0 0 0 16
AFG3L2, TUBB6 0 0 10 0 5 0 0 0 15
APTX 0 0 10 2 3 0 0 0 15
ITPR1, LOC126806590 3 4 5 0 4 0 0 0 15
LOC126860782, SETX 0 0 4 8 5 0 0 0 15
PMPCA 4 1 8 0 2 0 0 0 15
TMEM240 6 3 7 0 1 0 0 0 14
ATG7 7 1 6 0 1 0 0 0 13
ATM, C11orf65, LOC128772356, LOC129390354 7 3 3 0 0 0 0 0 13
LOC126862019, TDP1 0 0 10 1 3 0 0 0 13
SLC9A1 2 1 6 1 3 0 0 0 13
CA8 5 3 0 0 4 0 0 0 12
EEF2 1 1 7 0 2 0 0 1 12
XRCC1 2 1 5 0 4 0 0 0 12
ATXN2 0 0 4 3 2 0 1 1 11
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
LOC130061271, MKS1 0 3 7 1 0 0 0 0 11
PRDX3 10 2 1 0 0 0 0 0 11
ATM, C11orf65, LOC129390354 4 3 3 0 0 0 0 0 10
CAMTA1, LOC126805603 1 0 7 1 0 0 0 1 10
CEP104 3 7 0 0 0 0 0 0 10
CEP290, LOC129390514 1 2 6 1 0 0 0 0 10
ELOVL4 3 2 4 1 1 0 0 0 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
SACS, SGCG 0 0 0 8 1 0 0 0 9
ATN1, LOC109461484 2 0 2 2 2 0 0 0 8
NPHP1 3 5 0 0 0 0 0 0 8
NPHP3-ACAD11, UBA5 3 3 1 0 1 0 0 0 8
TCTN1 2 6 0 0 0 0 0 0 8
TCTN2 3 5 0 0 0 0 0 0 8
TRPC3 2 0 5 0 1 0 0 0 8
VPS41 6 1 1 0 0 0 0 0 8
CACNA1A, LOC108663985 1 0 1 2 3 0 0 0 7
DAB1 1 0 5 0 1 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
ATM, LOC130006700 0 0 5 0 1 0 0 0 6
ATXN1, LOC108663993 1 0 1 2 2 0 0 0 6
ATXN10, LOC107181287, LOC108660404 4 0 0 0 1 0 0 1 6
ATXN7 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
KIF14 0 6 0 0 0 0 0 0 6
LOC108663996, TBP 3 0 1 1 1 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
PNPT1 3 2 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
B9D2 1 4 0 0 0 0 0 0 5
FLVCR1, LOC129932486 0 0 4 0 1 0 0 0 5
FMR1 1 1 1 0 2 0 0 0 5
FXN, LOC130001862 2 1 1 0 1 0 0 0 5
LOC129994751, SIL1 0 0 4 1 0 0 0 0 5
PITRM1 3 0 2 0 0 0 0 0 5
SYT14 1 0 2 1 2 0 0 0 5
ZNF592 0 0 3 0 2 0 0 0 5
ATN1 1 1 2 0 0 0 0 0 4
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
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
TCTN3 4 0 0 0 0 0 0 0 4
ATM, C11orf65, LOC128772356, LOC129390352, LOC129390353, LOC129390354 1 0 2 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
CACNA1A, LOC126862865 0 1 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
LOC130004408, TCTN3 1 2 0 0 0 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
THG1L 0 0 1 0 2 0 0 0 3
ABCB7, LOC130068449 0 0 1 0 1 0 0 0 2
ACAT1, ATM, NPAT 1 0 1 0 0 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, LOC128772356, LOC129390352, LOC129390353 0 0 2 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
BRAF 2 0 0 0 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
MT-ATP6 0 2 0 0 0 0 0 0 2
MTCL1 1 0 1 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
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
AASDHPPT, ACAT1, ALG9, ALKBH8, AMOTL1, ANGPTL5, ANKRD49, ARHGAP20, ARHGAP42, ATM, BIRC2, BIRC3, BTG4, C11orf52, C11orf65, C11orf87, CARD16, CARD17, CARD18, CASP1, CASP12, CASP4, CASP5, CCDC82, CEP126, CEP57, CFAP300, CFAP68, CNTN5, CRYAB, CUL5, CWC15, CWF19L2, DCUN1D5, DDI1, DDX10, DIXDC1, DLAT, DYNC2H1, ELMOD1, ENDOD1, EXPH5, FAM76B, FDX1, FDXACB1, FUT4, GRIA4, GUCY1A2, HOATZ, HSPB2, JRKL, KBTBD3, KDM4D, KDM4E, LAYN, MAML2, MIR34B, MIR34BHG, MIR34C, MMP1, MMP10, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, MRE11, MSANTD4, MTMR2, NKAPD1, NPAT, PDGFD, PGR, PIH1D2, PIWIL4, POGLUT3, POU2AF1, POU2AF2, POU2AF3, PPP2R1B, RAB39A, RDX, SDHD, SESN3, SIK2, SLC35F2, SLN, SRSF8, TIMM8B, TMEM123, TMEM133, TRPC6, YAP1, ZC3H12C 1 0 0 0 0 0 0 0 1
ACAT1, ATM, C11orf65, EXPH5, NPAT, POGLUT3 0 0 1 0 0 0 0 0 1
ACAT1, ATM, CUL5, NPAT, RAB39A 1 0 0 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
ASNS, CZ1P-ASNS 0 1 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, LOC128772356, LOC129390352, LOC129390353, LOC129390354, LOC130006700, LOC130006701, LOC130006702, LOC130006703 1 0 0 0 0 0 0 0 1
ATM, C11orf65, POGLUT3 0 0 1 0 0 0 0 0 1
ATM, LOC128772354, LOC130006698, NPAT 1 0 0 0 0 0 0 0 1
ATM, LOC128772356 1 0 0 0 0 0 0 0 1
ATM, LOC129390352, LOC129390353 0 0 1 0 0 0 0 0 1
ATM, NPAT 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
MSH2 0 0 0 0 0 0 0 1 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 1 0 0 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
SAMD9 0 0 1 0 0 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
SUMF1 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
TCEAL4 0 0 1 0 0 0 0 0 1
THAP11 1 0 0 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: 264
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2687 482 12089 8908 1061 0 0 0 25226
Illumina Laboratory Services, Illumina 11 13 2702 496 774 0 0 0 3975
Fulgent Genetics, Fulgent Genetics 361 730 2048 333 23 0 0 0 3493
Natera, Inc. 161 22 1439 172 114 0 0 0 1908
Genome-Nilou Lab 41 42 262 175 504 0 0 0 1024
Counsyl 58 488 290 62 10 0 0 0 908
Baylor Genetics 169 297 276 0 0 0 0 0 741
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 302 227 0 0 0 0 0 0 529
OMIM 474 1 7 0 4 0 1 0 487
Mendelics 58 30 177 66 66 0 0 0 397
Revvity Omics, Revvity 95 55 228 0 0 0 0 0 378
GeneReviews 98 0 0 0 8 0 0 112 218
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 41 41 90 3 2 0 0 0 174
Neuberg Centre For Genomic Medicine, NCGM 17 47 109 0 0 0 0 0 173
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 53 101 16 0 0 0 0 0 170
3billion, Medical Genetics 60 36 31 7 0 0 0 0 134
UW Hindbrain Malformation Research Program, University of Washington 120 3 0 0 0 0 0 0 123
Myriad Genetics, Inc. 10 111 2 0 0 0 0 0 123
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 43 24 51 2 0 0 0 0 120
New York Genome Center 6 6 104 0 0 0 0 0 116
Centre for Mendelian Genomics, University Medical Centre Ljubljana 26 17 57 4 3 0 0 0 107
Institute of Human Genetics, University of Leipzig Medical Center 26 17 40 4 2 0 0 0 89
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 1 8 32 45 0 0 0 87
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 7 17 58 0 0 0 84
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 48 23 7 0 1 0 0 0 79
Genomic Research Center, Shahid Beheshti University of Medical Sciences 18 6 48 3 2 0 0 0 77
Juno Genomics, Hangzhou Juno Genomics, Inc 28 29 14 0 0 0 0 0 71
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 4 2 57 2 0 0 0 0 65
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 41 21 0 0 0 0 0 0 62
O&I group, Department of Genetics, University Medical Center of Groningen 15 9 34 0 0 0 0 0 58
Genetic Services Laboratory, University of Chicago 37 18 0 0 0 0 0 0 55
PreventionGenetics, part of Exact Sciences 1 2 23 23 6 0 0 0 55
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 8 18 20 0 4 0 0 0 50
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 47 47
Solve-RD Consortium 0 45 0 0 0 0 0 0 45
Molecular Genetics, Royal Melbourne Hospital 7 6 21 2 8 0 0 0 44
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 1 20 19 0 0 0 41
MGZ Medical Genetics Center 11 12 16 0 0 0 0 0 39
Centogene AG - the Rare Disease Company 7 9 22 1 0 0 0 0 39
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 2 31 4 0 0 0 0 38
GenomeConnect, ClinGen 0 0 0 0 0 0 0 35 35
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 18 3 11 0 0 0 34
Wendy Chung Laboratory, Columbia University Medical Center 13 20 0 0 0 0 0 0 33
Genomics England Pilot Project, Genomics England 8 20 1 0 0 0 0 0 29
Genetics and Molecular Pathology, SA Pathology 14 10 3 0 0 0 0 0 27
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 11 16 0 0 0 27
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 13 5 8 0 0 0 0 0 26
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 13 10 2 0 0 0 0 0 25
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 14 7 3 0 0 0 0 0 24
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 4 15 0 0 0 0 0 24
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 9 12 2 0 0 0 0 0 23
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 3 6 6 3 5 0 0 0 23
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 13 7 2 0 0 0 0 0 22
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 5 11 0 0 0 0 0 22
Paris Brain Institute, Inserm - ICM 22 0 0 0 0 0 0 0 22
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 4 10 7 0 0 0 0 0 21
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 11 8 0 0 0 0 0 0 19
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 19 19
Institute of Human Genetics, University of Goettingen 2 4 11 1 0 0 0 0 18
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 4 8 6 0 0 0 0 0 18
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 7 10 0 0 0 0 0 18
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 5 7 0 0 0 0 0 17
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 6 3 8 0 0 0 0 0 17
Institute of Human Genetics, University Hospital of Duesseldorf 7 1 9 0 0 0 0 0 17
Johns Hopkins Genomics, Johns Hopkins University 3 4 10 0 0 0 0 0 17
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 6 9 0 0 0 0 0 0 15
Undiagnosed Diseases Network, NIH 8 5 2 0 0 0 0 0 15
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 10 3 1 0 0 0 0 0 14
Pars Genome Lab 1 0 2 8 2 0 0 0 13
SIB Swiss Institute of Bioinformatics 0 4 5 0 3 0 0 0 12
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
Suma Genomics 3 4 5 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 8 2 0 0 0 0 11
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences 9 2 0 0 0 0 0 0 11
MVZ Medizinische Genetik Mainz 2 0 9 0 0 0 0 0 11
Mayo Clinic Laboratories, Mayo Clinic 1 0 9 0 0 0 0 0 10
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 3 1 0 0 0 0 0 10
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
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 5 2 0 0 0 0 0 9
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 5 1 3 0 0 0 0 0 9
DASA 7 2 0 0 0 0 0 0 9
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 1 5 0 0 0 0 0 9
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 6 2 0 0 0 0 0 0 8
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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 4 3 0 0 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
Institute of Human Genetics, Cologne University 5 2 0 0 0 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 5 0 0 0 0 0 7
Institute of Immunology and Genetics Kaiserslautern 3 1 3 0 0 0 0 0 7
Hadassah Hebrew University Medical Center 0 6 0 0 0 0 0 0 6
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 5 1 0 0 0 0 0 6
Daryl Scott Lab, Baylor College of Medicine 2 1 2 1 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
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 3 1 2 0 0 0 0 6
Department of Human Genetics, Hannover Medical School 1 1 4 0 0 0 0 0 6
Breakthrough Genomics, Breakthrough Genomics 3 3 0 0 0 0 0 0 6
Athena Diagnostics 0 0 0 0 5 0 0 0 5
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 2 2 0 0 0 0 0 5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 2 2 0 0 0 0 0 5
Institute of Human Genetics, University of Wuerzburg 0 3 2 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
Institute of Human Genetics, Heidelberg University 3 2 0 0 0 0 0 0 5
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 3 1 0 0 0 1 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
Lifecell International Pvt. Ltd 3 2 0 0 0 0 0 0 5
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 1 1 3 0 0 0 0 0 5
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 3 0 0 0 0 0 0 5
Dr.Nikuei Genetic Center 1 1 0 0 3 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 4 0 0 0 0 0 4
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 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
Palindrome, Gene Kavoshgaran Aria 4 0 0 0 0 0 0 0 4
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 0 3 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
Division of Human Genetics, Children's Hospital of Philadelphia 3 0 0 0 0 0 0 0 3
Manipal Hospitals, Manipal Hospital 0 2 1 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 0 0 0 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
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 2 0 0 0 0 0 0 3
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 1 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
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 1 1 1 0 0 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
Center for Individualized Medicine, Mayo Clinic 1 1 0 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
Research Group Niklas Dahl, Uppsala University 2 0 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
Pediatric Genomics Discovery Program, Yale University 1 1 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
University of Washington Department of Laboratory Medicine, University of Washington 1 1 0 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
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 2 0 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
Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu 0 1 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
Pangenia Genomics, Pangenia Inc. 0 1 1 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
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 0 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 1 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
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
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 0 1 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
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
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 0 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
Neurology, Jichi Medical University 1 0 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
NxGen MDx 0 1 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
Molecular Genetics Laboratory, Motol Hospital 0 1 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
Genetica Medica Policlinico Modena, Policlinico di Modena 0 1 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
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 1 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
COMBGENE, University of Calgary 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
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 1 0 0 0 0 0 0 0 1
Dr. Muhammad Imran Shabbir Lab, International Islamic University Islamabad 0 0 1 0 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 0 0 0 1
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 0 0 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 0 0 1

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