ClinVar Miner

Variants studied for polymicrogyria

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
79 72 188 67 72 4 462

Gene and significance breakdown #

Total genes and gene combinations: 31
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ADGRG1 32 23 120 28 39 0 227
PI4KA 17 16 24 32 26 0 112
TUBB2B 11 19 23 2 1 3 57
FIG4 6 2 8 5 6 0 27
RTTN 3 0 1 0 0 0 4
TUBA1A 2 1 0 0 0 1 4
ATP1A2 2 0 0 0 0 0 2
LAMA2 0 0 2 0 0 0 2
LAMA5 0 0 2 0 0 0 2
LINGO4 0 0 2 0 0 0 2
PAH 2 0 0 0 0 0 2
SCN3A 1 1 0 0 0 0 2
​intergenic 0 0 1 0 0 0 1
A3GALT2, ACOT11, ADPRS, AGBL4, AGBL4-IT1, AGO1, AGO3, AGO4, AIRIM, AKIRIN1, AKR1A1, ARMH1, ARTN, ATP6V0B, ATPAF1, B4GALT2, BEND5, BEST4, BMP8A, BMP8B, BSND, BTBD19, BTF3L4, C1orf122, C1orf185, C1orf210, C1orf216, C1orf50, C1orf87, C1orf94, C8A, C8B, CAP1, CC2D1B, CCDC163, CCDC17, CCDC24, CCDC30, CDC20, CDC20-DT, CDCA8, CDCP2, CDKN2C, CFAP144, CFAP57, CIMAP2, CITED4, CLDN19, CLSPN, CMPK1, COA7, COL8A2, COL9A2, CPT2, CSF3R, CSMD2, CTPS1, CYB5RL, CYP2J2, CYP4A11, CYP4A22, CYP4B1, CYP4X1, CYP4Z1, CZIB, CZIB-DT, DAB1, DHCR24, DIO1, DLGAP3, DMAP1, DMBX1, DMRTA2, DMRTB1, DNALI1, DPH2, DYNLT4, EBNA1BP2, ECHDC2, EDN2, EFCAB14, EIF2B3, ELAVL4, ELOVL1, EPHA10, EPS15, ERI3, ERI3-IT1, ERMAP, EVA1B, EXO5, EXO5-DT, FAAH, FAF1, FAM151A, FGGY, FHL3, FOXD2, FOXE3, FOXJ3, FOXO6, FYB2, GJA4, GJA9, GJA9-MYCBP, GJB3, GJB4, GJB5, GLIS1, GNL2, GPBP1L1, GPR199P, GPX7, GRIK3, GUCA2A, GUCA2B, HECTD3, HEYL, HIVEP3, HMGB4, HOOK1, HPCAL4, HPDL, HSD52, HYI, IFT25, INPP5B, IPO13, IPP, JUN, JUN-DT, KCNQ4, KDM4A, KIAA0319L, KIAA0754, KIF2C, KLF17, KLF18, KNCN, KTI12, LDLRAD1, LINC00853, LINC01144, LINC01343, LINC01358, LINC01389, LINC01398, LINC01562, LINC01685, LINC01748, LINC01753, LINC01755, LINC01767, LINC02777, LINC02784, LINC02794, LINC02808, LINC02811, LITATS1, LOC100507634, LOC101926944, LOC101926964, LOC101929536, LOC101929609, LOC101929626, LOC101929935, LOC107992392, LOC110120607, LOC110120609, LOC110120621, LOC110120642, LOC110120644, LOC110120958, LOC110120969, LOC110121002, LOC110121088, LOC110121125, LOC110121126, LOC110121139, LOC110121161, LOC110121214, LOC110121256, LOC111429629, LOC111464991, LOC111828505, LOC112577585, LOC112577586, LOC112577587, LOC112577588, LOC112577589, LOC112577590, LOC112577591, LOC112577594, LOC112577595, LOC112577596, LOC112577597, LOC112577598, LOC112577599, LOC112590790, LOC112590791, LOC112590792, LOC112590793, LOC112590794, LOC112590795, LOC112590799, LOC112590800, LOC112590801, LOC112590802, LOC112590803, LOC112590804, LOC112590805, LOC112590806, LOC112590807, LOC112590808, LOC112590809, LOC112590810, LOC112590812, LOC112590814, LOC114803468, LOC114827846, LOC115801424, LOC115801425, LOC115801427, LOC115801428, LOC120893128, LOC120893129, LOC120893130, LOC120893131, LOC120893132, LOC120893133, LOC120893134, LOC120893135, LOC120893136, LOC120893137, LOC120893138, LOC120893139, LOC120893140, LOC121725012, LOC121725013, LOC121725014, LOC121725016, LOC121725017, LOC121725018, LOC121725019, LOC121725020, LOC121725021, LOC121725022, LOC121725023, LOC121725024, LOC121725025, LOC122056833, LOC122056834, LOC122056835, LOC122056836, LOC122056837, LOC122056838, LOC122056839, LOC122056840, LOC122056841, LOC122056842, LOC122056843, LOC122056844, LOC122056845, LOC122056846, LOC122056847, LOC122056848, LOC122056849, LOC122056850, LOC122056851, LOC122056852, LOC122056853, LOC122056854, LOC122056855, LOC122056856, LOC122056857, LOC122056858, LOC122056859, LOC122056860, LOC122056861, LOC122056862, LOC122056863, LOC122056864, LOC122056865, LOC122056866, LOC122056867, LOC122056868, LOC122056869, LOC122056870, LOC122056871, LOC122056872, LOC122056873, LOC122056874, LOC122056875, LOC122056876, LOC122056877, LOC122056878, LOC122056879, LOC122056880, LOC122056881, LOC122056882, LOC122056883, LOC122056884, LOC122056887, LOC122056888, LOC122056889, LOC122056890, LOC122056891, LOC122056892, LOC122056893, LOC126805691, LOC126805692, LOC126805693, LOC126805694, LOC126805695, LOC126805696, LOC126805697, LOC126805698, LOC126805699, LOC126805700, LOC126805701, LOC126805702, LOC126805703, LOC126805704, LOC126805705, LOC126805706, LOC126805707, LOC126805708, LOC126805709, LOC126805710, LOC126805711, LOC126805712, LOC126805713, LOC126805714, LOC126805715, LOC126805716, LOC126805717, LOC126805718, LOC126805719, LOC126805720, LOC126805721, LOC126805722, LOC126805723, LOC126805724, LOC126805725, LOC126805726, LOC126805727, LOC126805728, LOC126805729, LOC126805730, LOC126805731, LOC126805732, LOC126805733, LOC126805734, LOC126805735, LOC126805736, LOC126805737, LOC126805738, LOC126805739, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC128125817, LOC128900003, LOC128900004, LOC129388492, LOC129388493, LOC129388494, LOC129388495, LOC129388496, LOC129388497, LOC129388498, LOC129388499, LOC129388500, LOC129388501, LOC129388502, LOC129388503, LOC129388504, LOC129388505, LOC129388506, LOC129388507, LOC129388508, LOC129388509, LOC129388510, LOC129388511, LOC129388512, LOC129388513, LOC129388514, LOC129388515, LOC129388516, LOC129388517, LOC129388518, LOC129388519, LOC129388520, LOC129388521, LOC129388522, LOC129388523, LOC129388524, LOC129388525, LOC129388526, LOC129388527, LOC129388528, LOC129388529, LOC129388530, LOC129388531, LOC129388532, LOC129388533, LOC129388534, LOC129388535, LOC129388536, LOC129388537, LOC129388538, LOC129930076, LOC129930077, LOC129930078, LOC129930079, LOC129930080, LOC129930081, LOC129930082, LOC129930083, LOC129930084, LOC129930085, LOC129930086, LOC129930087, LOC129930088, LOC129930089, LOC129930090, LOC129930091, LOC129930092, LOC129930093, LOC129930094, LOC129930095, LOC129930096, LOC129930097, LOC129930098, LOC129930099, LOC129930100, LOC129930101, LOC129930102, LOC129930103, LOC129930104, LOC129930105, LOC129930106, LOC129930107, LOC129930108, LOC129930109, LOC129930110, LOC129930111, LOC129930112, LOC129930113, LOC129930114, LOC129930115, LOC129930116, LOC129930117, LOC129930118, LOC129930119, LOC129930120, LOC129930121, LOC129930122, LOC129930123, LOC129930124, LOC129930125, LOC129930126, LOC129930127, LOC129930128, LOC129930129, LOC129930130, LOC129930131, LOC129930132, LOC129930133, LOC129930134, LOC129930135, LOC129930136, LOC129930137, LOC129930138, LOC129930139, LOC129930140, LOC129930141, LOC129930142, LOC129930143, LOC129930144, LOC129930145, LOC129930146, LOC129930147, LOC129930148, LOC129930149, LOC129930150, LOC129930151, LOC129930152, LOC129930153, LOC129930154, LOC129930155, LOC129930156, LOC129930157, LOC129930158, LOC129930159, LOC129930160, LOC129930161, LOC129930162, LOC129930163, LOC129930164, LOC129930165, LOC129930166, LOC129930167, LOC129930168, LOC129930169, LOC129930170, LOC129930171, LOC129930172, LOC129930173, LOC129930174, LOC129930175, LOC129930176, LOC129930177, LOC129930178, LOC129930179, LOC129930180, LOC129930181, LOC129930182, LOC129930183, LOC129930184, LOC129930185, LOC129930186, LOC129930187, LOC129930188, LOC129930189, LOC129930190, LOC129930191, LOC129930192, LOC129930193, LOC129930194, LOC129930195, LOC129930196, LOC129930197, LOC129930198, LOC129930199, LOC129930200, LOC129930201, LOC129930202, LOC129930203, LOC129930204, LOC129930205, LOC129930206, LOC129930207, LOC129930208, LOC129930209, LOC129930210, LOC129930211, LOC129930212, LOC129930213, LOC129930214, LOC129930215, LOC129930216, LOC129930217, LOC129930218, LOC129930219, LOC129930220, LOC129930221, LOC129930222, LOC129930223, LOC129930224, LOC129930225, LOC129930226, LOC129930227, LOC129930228, LOC129930229, LOC129930230, LOC129930231, LOC129930232, LOC129930233, LOC129930234, LOC129930235, LOC129930236, LOC129930237, LOC129930238, LOC129930239, LOC129930240, LOC129930241, LOC129930242, LOC129930243, LOC129930244, LOC129930245, LOC129930246, LOC129930247, LOC129930248, LOC129930249, LOC129930250, LOC129930251, LOC129930252, LOC129930253, LOC129930254, LOC129930255, LOC129930256, LOC129930257, LOC129930258, LOC129930259, LOC129930260, LOC129930261, LOC129930262, LOC129930263, LOC129930264, LOC129930265, LOC129930266, LOC129930267, LOC129930268, LOC129930269, LOC129930270, LOC129930271, LOC129930272, LOC129930273, LOC129930274, LOC129930275, LOC129930276, LOC129930277, LOC129930278, LOC129930279, LOC129930280, LOC129930281, LOC129930282, LOC129930283, LOC129930284, LOC129930285, LOC129930286, LOC129930287, LOC129930288, LOC129930289, LOC129930290, LOC129930291, LOC129930292, LOC129930293, LOC129930294, LOC129930295, LOC129930296, LOC129930297, LOC129930298, LOC129930299, LOC129930300, LOC129930301, LOC129930302, LOC129930303, LOC129930304, LOC129930305, LOC129930306, LOC129930307, LOC129930308, LOC129930309, LOC129930310, LOC129930311, LOC129930312, LOC129930313, LOC129930314, LOC129930315, LOC129930316, LOC129930317, LOC129930318, LOC129930319, LOC129930320, LOC129930321, LOC129930322, LOC129930323, LOC129930324, LOC129930325, LOC129930326, LOC129930327, LOC129930328, LOC129930329, LOC129930330, LOC129930331, LOC129930332, LOC129930333, LOC129930334, LOC129930335, LOC129930336, LOC129930337, LOC129930338, LOC129930339, LOC129930340, LOC129930341, LOC129930342, LOC129930343, LOC129930344, LOC129930345, LOC129930346, LOC129930347, LOC129930348, LOC129930349, LOC129930350, LOC129930351, LOC129930352, LOC129930353, LOC129930354, LOC129930355, LOC129930356, LOC129930357, LOC129930358, LOC129930359, LOC129930360, LOC129930361, LOC129930362, LOC129930363, LOC129930364, LOC129930365, LOC129930366, LOC129930367, LOC129930368, LOC129930369, LOC129930370, LOC129930371, LOC129930372, LOC129930373, LOC129930374, LOC129930375, LOC129930376, LOC129930377, LOC129930378, LOC129930379, LOC129930380, LOC129930381, LOC129930382, LOC129930383, LOC129930384, LOC129930385, LOC129930386, LOC129930387, LOC129930388, LOC129930389, LOC129930390, LOC129930391, LOC129930392, LOC129930393, LOC129930394, LOC129930395, LOC129930396, LOC129930397, LOC129930398, LOC129930399, LOC129930400, LOC129930401, LOC129930402, LOC129930403, LOC129930404, LOC129930405, LOC129930406, LOC129930407, LOC129930408, LOC129930409, LOC129930410, LOC129930411, LOC129930412, LOC129930413, LOC129930414, LOC129930415, LOC129930416, LOC129930417, LOC129930418, LOC129930419, LOC129930420, LOC129930421, LOC129930422, LOC129930423, LOC129930424, LOC129930425, LOC129930426, LOC129930427, LOC129930428, LOC129930429, LOC129930430, LOC129930431, LOC129930432, LOC129930433, LOC129930434, LOC129930435, LOC129930436, LOC129930437, LOC129930438, LOC129930439, LOC129930440, LOC129930441, LOC129930442, LOC129930443, LOC129930444, LOC129930445, LOC129930446, LOC129930447, LOC129930448, LOC129930449, LOC129930450, LOC129930451, LOC129930452, LOC129930453, LOC129930454, LOC129930455, LOC129930456, LOC129930457, LOC129930458, LOC129930459, LOC129930460, LOC129930461, LOC129930462, LOC129930463, LOC129930464, LOC129930465, LOC129930466, LOC129930467, LOC129930468, LOC129930469, LOC129930470, LOC129930471, LOC129930472, LOC129930473, LOC129930474, LOC129930475, LOC129930476, LOC129930477, LOC129930478, LOC129930479, LOC129930480, LOC129930481, LOC129930482, LOC129930483, LOC129930484, LOC129930485, LOC129930486, LOC129930487, LOC129930488, LOC129930489, LOC129930490, LOC129930491, LOC129930492, LOC129930493, LOC129930494, LOC129930495, LOC129930496, LOC129930497, LOC129930498, LOC129930499, LOC129930500, LOC129930501, LOC129930502, LOC129930503, LOC129930504, LOC129930505, LOC129930506, LOC129930507, LOC129930508, LOC129930509, LOC129930510, LOC129930511, LOC129930512, LOC129930513, LOC129930514, LOC129930515, LOC129930516, LOC129930517, LOC129930518, LOC129930519, LOC129930520, LOC129930521, LOC129930522, LOC129930523, LOC129930524, LOC129930525, LOC129930526, LOC129930527, LOC129930528, LOC129930529, LOC129930530, LOC129930531, LOC129930532, LOC129930533, LOC129930534, LOC129930535, LOC129930536, LOC129930537, LOC129930538, LOC129930539, LOC129930540, LOC129930541, LOC129930542, LOC129930543, LOC129930544, LOC129930545, LOC129930546, LOC129930547, LOC129930548, LOC129930549, LOC129930550, LOC129930551, LOC129930552, LOC129930553, LOC129930554, LOC129930555, LOC129930556, LOC129930557, LOC129930558, LOC129930559, LOC129930560, LOC129930561, LOC129930562, LOC129930563, LOC129930564, LOC129930565, LOC129930566, LOC129930567, LOC129930568, LOC129930569, LOC129930570, LOC129930571, LOC129930572, LOC129930573, LOC129930574, LOC129930575, LOC129930576, LOC129930577, LOC129930578, LOC129930579, LOC129930580, LOC129930581, LOC129930582, LOC129930583, LOC129930584, LOC129930585, LOC129930586, LOC129930587, LOC129930588, LOC129930589, LOC129930590, LOC129930591, LOC129930592, LOC129930593, LOC129930594, LOC129930595, LOC129930596, LOC129930597, LOC129930598, LOC129930599, LOC129930600, LOC129930601, LOC129930602, LOC129930603, LOC129930604, LOC129930605, LOC129930606, LOC129930607, LOC129930608, LOC129930609, LOC129930610, LOC129930611, LOC129930612, LOC129930613, LOC129930614, LOC129930615, LOC129930616, LOC129930617, LOC129930618, LOC129930619, LOC129930620, LOC129930621, LOC129930622, LOC129930623, LOC129930624, LOC129930625, LOC129930626, LOC129930627, LOC129930628, LOC129930629, LOC129930630, LOC129930631, LOC129930632, LOC129930633, LOC129930634, LOC129930635, LOC129930636, LOC129930637, LOC129930638, LOC129930639, LOC129930640, LOC129930641, LOC129930642, LOC129930643, LOC129930644, LOC129930645, LOC129930646, LOC129930647, LOC129930648, LOC130932201, LOC132088706, LOC132088710, LOC132088711, LOC132088712, LOC132088713, LOC132088714, LOC132088715, LOC132088716, LOC132088717, LOC132088718, LOC132088719, LOC132088721, LOC132088722, LOC132088723, LOC132088724, LOC132088725, LOC132088726, LOC132088727, LOC132088728, LOC132088729, LOC132088730, LOC132088731, LOC132088732, LOC132088733, LOC132088734, LOC132088735, LOC132090662, LOC132090663, LOC132090664, LOC339539, LRP8, LRP8-DT, LRRC41, LRRC42, LSM10, LURAP1, MACF1, MAGOH, MAGOH-DT, MANEAL, MAP7D1, MAST2, MEAF6, MED8, MFSD2A, MIR30C1, MIR30E, MIR3605, MIR3659, MIR3659HG, MIR4255, MIR4421, MIR4422, MIR4422HG, MIR4711, MIR4781, MIR552, MIR5581, MIR5584, MIR6079, MIR6500, MIR6732, MIR6733, MIR6734, MIR6735, MIR761, MKNK1, MMACHC, MOB3C, MPL, MROH7, MROH7-TTC4, MRPL37, MRPS15, MTF1, MUTYH, MYCBP, MYCL, MYSM1, NASP, NCDN, NDC1, NDUFS5, NFIA, NFYC, NRDC, NSUN4, NT5C1A, OMA1, ORC1, OSBPL9, OSCP1, OXCT2, P3H1, P3R3URF, P3R3URF-PIK3R3, PABPC4, PARS2, PCSK9, PDZK1IP1, PHC2, PIK3R3, PLK3, PLPP3, PODN, POMGNT1, POU3F1, PPCS, PPIE, PPIH, PPT1, PRDX1, PRKAA2, PRPF38A, PSMB2, PTCH2, PTPRF, RAB3B, RAD54L, RHBDL2, RIMKLA, RIMS3, RLF, RNF11, RNF220, RNU5D-1, RNU5F-1, RPS8, RRAGC, RRAGC-DT, RSPO1, SCMH1, SCMH1-DT, SCP2, SF3A3, SFPQ, SH3D21, SHISAL2A, SLC1A7, SLC2A1, SLC2A1-DT, SLC5A9, SLC6A9, SLFNL1, SMAP2, SMIM12, SNIP1, SNORA110, SNORA55, SNORA63C, SNORD145, SNORD160, SNORD38A, SNORD38B, SNORD46, SNORD55, SPATA6, SSBP3, ST3GAL3, STIL, STK40, SVBP, SZT2, TACSTD2, TAL1, TCEANC2, TEKT2, TESK2, TEX38, TFAP2E, THRAP3, TIE1, TMCO2, TMEM125, TMEM269, TMEM269-DT, TMEM275, TMEM35B, TMEM53, TMEM59, TMEM61, TMEM69, TOE1, TRABD2B, TRAPPC3, TRIT1, TRK-CTT7-1, TSPAN1, TTC22, TTC39A, TTC4, TUT4, TXNDC12, UQCRH, UROD, USP24, UTP11, YBX1, YIPF1, YRDC, ZC3H12A, ZFP69, ZFP69B, ZFYVE9, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF362, ZNF684, ZNF691, ZNF691-DT, ZSCAN20, ZSWIM5, ZYG11A, ZYG11B 0 1 0 0 0 0 1
ACOT9, APOO, ARX, CXorf58, DCAF8L1, DCAF8L2, DMD, EIF2S3, FTHL17, GK, IL1RAPL1, KLHL15, LOC105373150, LOC108410393, LOC109610631, LOC110120592, LOC110120593, LOC110120594, LOC110120595, LOC110120596, LOC110120597, LOC113875018, LOC113875019, LOC114022706, LOC116309148, LOC116309149, LOC116309150, LOC121627963, LOC125446277, LOC126863228, LOC126863229, LOC126863230, LOC126863231, LOC126863232, LOC126863233, LOC126863234, LOC126863235, LOC126863236, LOC127933115, LOC129391296, LOC129391297, LOC130068046, LOC130068047, LOC130068048, LOC130068049, LOC130068050, LOC130068051, LOC130068052, LOC130068053, LOC130068054, LOC130068055, LOC130068056, LOC130068057, LOC130068058, LOC130068059, LOC130068060, LOC130068061, LOC130068062, LOC130068063, LOC130068064, LOC130068065, LOC130068066, LOC130068067, LOC130068068, LOC130068069, LOC130068070, LOC130068071, LOC130068072, LOC130068073, LOC130068074, LOC130068075, LOC130068076, LOC130068077, LOC130068078, LOC130068079, LOC130068080, LOC130068081, LOC130068082, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MAGEB1, MAGEB10, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEB6B, MIR3915, MIR4666B, MIR548F5, MIR6134, NR0B1, PCYT1B, PDK3, POLA1, PPP4R3C, SAT1, SAT1-DT, SCARNA23, SUPT20HL1, SUPT20HL2, TAB3, TASL, ZFX 1 0 0 0 0 0 1
AKT3 0 1 0 0 0 0 1
BORCS5 0 1 0 0 0 0 1
DDX23 0 1 0 0 0 0 1
DHX37 0 1 0 0 0 0 1
DYNC1H1 0 1 0 0 0 0 1
EHMT1 1 0 0 0 0 0 1
ENTPD1 0 0 1 0 0 0 1
LOC125467768, PCDH19 0 0 1 0 0 0 1
NR2F1 0 0 1 0 0 0 1
NSDHL 0 0 1 0 0 0 1
NUS1 0 1 0 0 0 0 1
OFD1 0 1 0 0 0 0 1
PEX1 0 0 1 0 0 0 1
PSMC3 1 0 0 0 0 0 1
SETD5 0 1 0 0 0 0 1
WFS1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 71 9 31 0 111
Natera, Inc. 5 0 27 21 9 0 62
PreventionGenetics, part of Exact Sciences 0 3 3 32 6 0 44
OMIM 39 0 0 0 0 0 39
Genome-Nilou Lab 0 0 2 0 37 0 39
Genetic Services Laboratory, University of Chicago 11 8 15 0 0 0 34
Fulgent Genetics, Fulgent Genetics 6 12 7 7 2 0 34
Baylor Genetics 2 1 13 0 0 0 16
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 6 4 0 0 0 11
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 8 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 2 3 5 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 1 4 4 0 0 0 9
3billion, Medical Genetics 3 0 5 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 4 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 4 0 0 0 7
Center for Statistical Genetics, Columbia University 3 4 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 3 2 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 2 0 0 0 5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 3 2 0 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 1 2 1 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 1 1 0 0 0 4
Undiagnosed Diseases Network, NIH 2 2 0 0 0 0 4
New York Genome Center 0 2 2 0 0 0 4
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 4 0 0 0 0 0 4
Mendelics 2 0 0 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Engle Laboratory, Boston Children's Hospital 1 1 0 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 1 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 0 2
Precision Medical Center, Maternal and Child Health Hospital of Hubei Province 0 1 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 1 0 0 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.