ClinVar Miner

Variants studied for hypogonadotropic hypogonadism

Included ClinVar conditions (102):
Minimum submission review status: Collection method:
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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 association association not found risk factor not provided total
1239 485 3247 2491 888 1 5 1 19 32 7911

Gene and significance breakdown #

Total genes and gene combinations: 148
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association association not found risk factor not provided total
CHD7 411 127 912 1009 362 0 0 1 0 4 2603
FGFR1 99 74 299 260 42 0 0 0 6 1 721
BTK 147 35 142 172 49 0 0 0 0 0 533
RAB3GAP2 11 9 263 216 39 0 0 0 0 3 512
SEMA3E 1 2 289 198 27 0 0 0 0 0 509
DCAF17 26 11 128 206 43 0 0 0 0 1 402
NR0B1 90 15 41 141 37 0 0 0 0 0 309
ANOS1 55 16 47 21 37 0 0 0 0 0 164
CHD7, LOC126860403 23 2 61 48 18 0 0 0 0 0 138
MAGEL2 26 23 81 5 1 0 0 0 0 5 136
GNRHR 25 9 75 8 17 0 0 0 0 1 128
CAST, LOC101929710, PCSK1 12 7 87 7 4 0 0 0 0 0 117
LHX3 12 3 75 18 11 0 0 0 0 0 110
TBX19 13 5 60 3 19 0 0 0 0 0 98
PROP1 19 37 38 12 11 0 0 0 0 5 96
HESX1 17 4 55 20 5 0 0 0 0 0 91
LEPR 5 3 61 7 7 0 0 0 0 0 81
GHRHR 12 9 42 4 9 0 0 0 0 0 76
LEP 4 1 62 6 3 0 0 0 0 0 76
PROKR2 9 17 30 19 10 0 0 0 0 0 69
DCAF17, METTL8 8 1 19 31 2 0 0 0 0 0 59
ACBD6, LHX4 5 0 25 8 11 0 0 0 0 1 50
PNPLA6 13 8 11 0 13 0 0 0 0 7 49
POU1F1 26 9 16 0 1 0 0 0 0 1 49
TACR3 6 2 33 4 5 0 0 0 0 0 48
FGFR1, LOC102723716 0 1 31 4 11 0 0 0 0 0 47
GH-LCR, GH1 22 4 12 5 3 0 0 0 0 0 44
SMCHD1 20 0 9 2 12 0 0 0 0 0 42
OTX2 1 1 24 4 5 0 0 0 0 0 34
ARL14EP-DT, FSHB 4 1 20 1 4 0 1 0 0 0 31
RNF216 11 3 13 2 0 0 0 0 0 0 28
LHX4 2 1 15 6 4 0 0 0 0 0 25
WDR11 2 3 10 1 10 0 0 0 0 0 24
DMXL2 1 0 7 2 12 0 0 0 0 0 21
FGF8 7 4 8 1 2 0 0 0 0 1 20
GNRH1 1 1 13 2 2 0 0 0 0 0 19
ARHGAP35 0 9 5 3 0 0 0 0 0 0 17
LHB 6 0 1 1 8 0 0 0 0 0 16
SEMA3A 1 1 7 3 0 0 0 0 5 0 16
SOX11 3 2 6 5 0 0 0 0 0 0 16
RNPC3 9 1 2 0 2 0 0 0 0 0 14
NDNF 3 1 2 0 6 0 0 0 0 0 12
HERC2 1 0 8 2 0 0 0 0 0 0 11
KISS1R 3 0 2 2 2 0 0 0 1 0 10
POU6F2 0 0 10 0 0 0 0 0 0 0 10
PROK2 6 0 1 1 1 0 0 0 0 0 9
TCF12 0 5 2 1 0 0 0 0 0 0 8
CCDC141 0 0 4 3 0 0 0 0 0 0 7
DUSP6 3 0 2 0 1 0 0 0 2 0 7
​intergenic 4 0 2 0 0 0 0 0 0 0 6
LEPR, LEPROT 0 0 4 1 1 0 0 0 0 0 6
RBM28 2 2 2 0 0 0 0 0 0 0 6
SEMA3F 0 0 5 0 0 1 0 0 0 0 6
CHMP2B, POU1F1 0 0 0 1 5 0 0 0 0 0 5
FLRT3, MACROD2 1 0 3 0 1 0 0 0 0 0 5
HS6ST1 0 1 1 3 2 0 0 0 0 0 5
KISS1 1 1 0 1 2 0 0 0 0 0 5
LEPR, LOC122094844 0 0 4 0 1 0 0 0 0 0 5
NSMF 0 0 3 1 0 0 0 0 1 0 5
POLR3B 1 1 1 0 0 0 3 0 0 0 5
SPRY4 3 0 2 0 0 0 0 0 1 0 5
FGFR1, LOC130000233 0 0 3 1 0 0 0 0 0 0 4
NDN 0 0 4 0 0 0 0 0 0 0 4
NHLH2 1 0 4 0 0 0 0 0 0 0 4
PLXNA3 0 0 4 0 0 0 0 0 0 0 4
RPE65 1 0 3 0 0 0 0 0 0 0 4
SIM1 0 0 4 0 0 0 0 0 0 0 4
SOX3 2 0 0 1 1 0 0 0 0 0 4
FGFR1, LOC130000232 0 0 2 0 1 0 0 0 0 0 3
IL17RD 0 0 0 0 3 0 0 0 0 0 3
IL17RD, LOC126806689 0 0 1 1 1 0 0 0 0 0 3
LOC126860797, NSMF 0 0 2 0 0 0 0 0 1 0 3
MED13 3 0 0 0 0 0 0 0 0 0 3
POLR2F, SOX10 1 0 1 0 0 0 0 0 0 1 3
ROBO1 2 1 0 0 0 0 0 0 0 0 3
ADAM9, ADGRA2, ADRB3, ASH2L, BAG4, BRF2, DDHD2, EIF4EBP1, ERLIN2, FGFR1, GOT1L1, HTRA4, LETM2, LINC03042, LSM1, NSD3, PLEKHA2, PLPBP, PLPP5, RAB11FIP1, STAR, TACC1, TM2D2 1 0 1 0 0 0 0 0 0 0 2
ARHGAP5 0 1 1 0 0 0 0 0 0 0 2
ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 2 0 0 0 0 0 0 0 0 0 2
ATP10A, GABRA5, GABRB3, GABRG3, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 2 0 0 0 0 0 0 0 0 0 2
AXL 0 0 0 2 0 0 0 0 0 0 2
BPNT1, EPRS1, IARS2, MIR194-1, MIR215, RAB3GAP2, SLC30A10 0 0 2 0 0 0 0 0 0 0 2
CRIPT 2 0 0 0 0 0 0 0 0 0 2
FEZF1 0 0 1 1 0 0 0 0 0 0 2
FGF17 1 0 0 0 0 0 0 0 1 0 2
GH1 2 0 0 0 0 0 0 0 0 0 2
KLB 0 0 2 0 0 0 0 0 0 0 2
LOC108281134, SOX3 0 0 1 0 1 0 0 0 0 0 2
NPAP1 0 0 0 2 0 0 0 0 0 0 2
RALGAPB 0 2 0 0 0 0 0 0 0 0 2
TAC3 1 1 0 0 0 0 0 0 0 0 2
ADGRA2, ADRB3, ASH2L, BAG4, BRF2, DDHD2, EIF4EBP1, FGFR1, GOT1L1, LETM2, LINC03042, LOC102723716, LOC107133509, LOC108863620, LOC110121182, LOC113788278, LOC113788279, LOC116186927, LOC121740715, LOC124153143, LOC124153144, LOC124153145, LOC124153146, LOC124153147, LOC130000208, LOC130000209, LOC130000210, LOC130000211, LOC130000212, LOC130000213, LOC130000214, LOC130000215, LOC130000216, LOC130000217, LOC130000218, LOC130000219, LOC130000220, LOC130000221, LOC130000222, LOC130000223, LOC130000224, LOC130000225, LOC130000226, LOC130000227, LOC130000228, LOC130000229, LOC130000230, LOC130000231, LOC130000232, LOC130000233, LSM1, NSD3, PLPP5, RAB11FIP1, STAR 1 0 0 0 0 0 0 0 0 0 1
APBA2, ARHGAP11A, ARHGAP11B, ATP10A, CHRFAM7A, CHRNA7, CYFIP1, ENTREP2, FAN1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA8H, GOLGA8J, GOLGA8M, GOLGA8N, GOLGA8O, HERC2, IPW, KLF13, MAGEL2, MIR211, MKRN3, MTMR10, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, OR4M2, OR4N4, OTUD7A, POTEB, POTEB2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TJP1, TRPM1, TUBGCP5, UBE3A 1 0 0 0 0 0 0 0 0 0 1
APPL1, ASB14, HESX1, IL17RD 0 0 1 0 0 0 0 0 0 0 1
ARID1A 1 0 0 0 0 0 0 0 0 0 1
ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX6, BTK, CENPI, CSTF2, DRP2, GLA, HNRNPH2, NOX1, NXF5, PCDH19, RPL36A, RPL36A-HNRNPH2, SRPX2, SYTL4, TAF7L, TIMM8A, TMEM35A, TNMD, TRMT2B, TSPAN6, XKRX 0 0 1 0 0 0 0 0 0 0 1
ASPH, CA8, CHD7, CLVS1, NKAIN3, RAB2A 1 0 0 0 0 0 0 0 0 0 1
ASPH, CA8, CHD7, CLVS1, RAB2A 0 0 1 0 0 0 0 0 0 0 1
ASPH, CHD7, CLVS1 1 0 0 0 0 0 0 0 0 0 1
ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L2, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 1 0 0 0 0 0 0 0 0 0 1
ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 1 0 0 0 0 0 0 0 0 0 1
ATP6AP1, CTAG1A, CTAG1B, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A 0 1 0 0 0 0 0 0 0 0 1
BBIP1 1 0 0 0 0 0 0 0 0 0 1
BPNT1, C1orf115, EPRS1, IARS2, LYPLAL1, MARK1, MIR194-1, MIR215, MTARC1, MTARC2, RAB3GAP2, SLC30A10, TGFB2 1 0 0 0 0 0 0 0 0 0 1
BRCA2 1 0 0 0 0 0 0 0 0 0 1
BTK, GLA, HNRNPH2, RPL36A, RPL36A-HNRNPH2 1 0 0 0 0 0 0 0 0 0 1
BTK, GLA, RPL36A, RPL36A-HNRNPH2 0 0 1 0 0 0 0 0 0 0 1
BTK, TIMM8A 1 0 0 0 0 0 0 0 0 0 1
CACNA2D1, HGF, PCLO, SEMA3A, SEMA3D, SEMA3E 0 0 1 0 0 0 0 0 0 0 1
CHD7, LOC126860403, LOC130000466, LOC130000467, LOC130000468 1 0 0 0 0 0 0 0 0 0 1
CSHL1, GH-LCR, GH1 0 0 1 0 0 0 0 0 0 0 1
CYFIP1, GOLGA6L1, GOLGA6L2, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, PWRN1, PWRN2, SNRPN, TUBGCP5 1 0 0 0 0 0 0 0 0 0 1
DMD, FTHL17, GK, IL1RAPL1, LOC108410393, LOC113875019, LOC116309149, LOC116309150, LOC121627963, LOC125446277, LOC126863234, LOC126863235, LOC126863236, LOC129391296, LOC129391297, LOC130068072, LOC130068073, LOC130068074, LOC130068075, LOC130068076, LOC130068077, LOC130068078, LOC130068079, LOC130068080, LOC130068081, LOC130068082, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR3915, MIR4666B, MIR6134, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 0 0 0 1
DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 0 0 0 1
DMD, FTHL17, GK, LOC108410393, LOC113875019, LOC116309149, LOC116309150, LOC121627963, LOC125446277, LOC126863236, LOC130068074, LOC130068075, LOC130068076, LOC130068077, LOC130068078, LOC130068079, LOC130068080, LOC130068081, LOC130068082, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 0 0 0 1
DMXL2, LOC126862131 0 0 1 0 0 0 0 0 0 0 1
DNA2 0 1 0 0 0 0 0 0 0 0 1
EP300 0 1 0 0 0 0 0 0 0 0 1
FGFR1, LOC130000230, LOC130000231, LOC130000232, LOC130000233 1 0 0 0 0 0 0 0 0 0 1
HS6ST1, LOC121725102 0 0 1 0 0 0 0 0 0 0 1
IGSF10 0 0 1 0 0 0 0 0 0 0 1
IL1RAPL1, LOC108410393, LOC113875019, LOC116309149, LOC116309150, LOC126863235, LOC126863236, LOC130068072, LOC130068073, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR4666B, NR0B1, TASL 1 0 0 0 0 0 0 0 0 0 1
KDM6A 0 1 0 0 0 0 0 0 0 0 1
KISS1R, LOC130062853 0 0 1 0 0 0 0 0 0 0 1
KMT2D 0 1 0 0 0 0 0 0 0 0 1
LEP, LOC106728418 0 0 0 1 0 0 0 0 0 0 1
LOC100287944, POLR3B 0 0 0 0 0 0 1 0 0 0 1
LOC108281177, SOX2, SOX2-OT 1 0 0 0 0 0 0 0 0 0 1
LOC108410393, NR0B1 1 0 0 0 0 0 0 0 0 0 1
LOC129931062, RNPC3 0 0 1 0 0 0 0 0 0 0 1
LOC129998730, SEMA3E 0 0 1 0 0 0 0 0 0 0 1
LOC129998733, LOC129998734, SEMA3A 0 0 0 0 0 0 0 0 1 0 1
LOC130062084, SMCHD1 0 0 0 0 1 0 0 0 0 0 1
MAN2C1 0 0 1 0 0 0 0 0 0 0 1
MCOLN1, PNPLA6 0 0 0 1 0 0 0 0 0 0 1
NLGN3 1 0 0 0 0 0 0 0 0 0 1
POC1A 0 1 0 0 0 0 0 0 0 0 1
PUF60 0 1 0 0 0 0 0 0 0 0 1
RAB3GAP1 0 0 0 0 0 0 0 0 0 1 1
RERE 0 1 0 0 0 0 0 0 0 0 1
RYR1 0 0 1 0 0 0 0 0 0 0 1
SEMA3A, SEMA3E 0 0 1 0 0 0 0 0 0 0 1
SHH 1 0 0 0 0 0 0 0 0 0 1
SNHG14, SNRPN, SNURF 1 0 0 0 0 0 0 0 0 0 1
SRA1 0 0 1 0 0 0 0 0 0 0 1
SYNE2 0 0 1 0 0 0 0 0 0 0 1
TNFRSF1A 1 0 0 0 0 0 0 0 0 0 1
TUBB3 0 0 1 0 0 0 0 0 0 0 1
XRCC4 1 0 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 205
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association association not found risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 527 94 1611 2195 596 0 0 0 0 0 5023
Illumina Laboratory Services, Illumina 7 2 1029 169 235 0 0 0 0 0 1442
Fulgent Genetics, Fulgent Genetics 22 11 259 183 18 0 0 0 0 0 493
OMIM 295 0 2 0 0 0 0 0 19 0 316
Reproductive Endocrine Unit, Massachusetts General Hospital 57 48 72 9 0 0 0 0 0 0 186
Baylor Genetics 50 24 60 0 0 0 0 0 0 0 134
Genome-Nilou Lab 0 0 0 0 113 0 0 0 0 0 113
Revvity Omics, Revvity 12 9 56 0 0 0 0 0 0 0 77
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 26 8 29 4 0 0 0 0 0 0 67
3billion 25 19 10 10 0 0 0 0 0 0 64
Natera, Inc. 6 2 22 19 11 0 0 0 0 0 60
Genetic Services Laboratory, University of Chicago 35 5 10 0 2 0 0 0 0 0 52
Mendelics 17 2 10 13 10 0 0 0 0 0 52
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 11 14 21 1 0 0 0 0 0 0 47
Centre for Mendelian Genomics, University Medical Centre Ljubljana 8 3 33 0 3 0 0 0 0 0 47
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 28 15 0 1 1 0 0 0 0 0 45
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 38 6 0 0 0 0 0 0 0 0 44
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 26 3 6 0 6 0 0 0 0 0 41
New York Genome Center 3 1 37 0 0 0 0 0 0 0 41
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 24 0 8 1 1 0 0 0 0 0 34
Institute of Human Genetics, University of Leipzig Medical Center 11 9 13 0 0 0 0 0 0 0 33
Juno Genomics, Hangzhou Juno Genomics, Inc 11 11 11 0 0 0 0 0 0 0 33
Counsyl 3 18 7 0 1 0 0 0 0 0 29
Endocrinology Clinic, Seth G.S. Medical College 15 9 0 0 0 0 0 0 0 0 24
Department of Pediatric Endocrinology, Cukurova University Medical Faculty 0 0 23 0 0 1 0 0 0 0 24
Neuberg Centre For Genomic Medicine, NCGM 4 3 15 0 0 0 0 0 0 0 22
MGZ Medical Genetics Center 3 8 10 0 0 0 0 0 0 0 21
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital 20 0 0 0 0 0 0 0 0 0 20
University of Washington Center for Mendelian Genomics, University of Washington 0 20 0 0 0 0 0 0 0 0 20
Center for Human Genetics, Inc, Center for Human Genetics, Inc 5 6 5 2 1 0 0 0 0 0 19
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 12 1 6 0 0 0 0 0 0 0 19
GeneReviews 0 0 0 0 0 0 0 0 0 16 16
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 13 3 0 0 0 0 0 0 0 0 16
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 15 0 0 0 0 0 0 0 0 0 15
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 2 8 0 0 0 0 0 0 0 15
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 8 4 0 0 0 0 0 0 14
Genetics Department, Polish Mother's Memorial Hospital Research Institute 3 3 8 0 0 0 0 0 0 0 14
Chan Lab, Boston Children's Hospital 0 13 0 0 0 0 0 0 0 0 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 13 0 0 0 0 0 13
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 8 5 0 0 0 0 0 0 0 0 13
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 2 2 0 0 0 0 0 0 0 12
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 2 1 9 0 0 0 0 0 12
Center for Molecular Medicine, Children’s Hospital of Fudan University 5 6 0 0 0 0 0 0 0 0 11
MVZ Medizinische Genetik Mainz 0 1 10 0 0 0 0 0 0 0 11
NHS Central & South Genomic Laboratory Hub 6 2 3 0 0 0 0 0 0 0 11
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 5 1 0 0 0 0 0 0 10
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 5 4 0 0 0 0 0 0 0 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 7 1 1 0 1 0 0 0 0 0 10
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 9 0 0 0 0 0 0 0 0 10
Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 3 7 0 0 0 0 0 0 0 0 10
Genomics England Pilot Project, Genomics England 4 6 0 0 0 0 0 0 0 0 10
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 2 6 1 0 0 0 0 0 0 0 9
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 7 0 0 0 0 0 0 0 0 9
Daryl Scott Lab, Baylor College of Medicine 7 0 1 0 0 0 0 0 0 0 8
Genetics and Molecular Pathology, SA Pathology 4 1 3 0 0 0 0 0 0 0 8
Laboratoire de Genetique Biologique, CHU de Poitiers 7 1 0 0 0 0 0 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 7 0 0 0 0 0 7
Laboratory of Prof. Karen Avraham, Tel Aviv University 6 1 0 0 0 0 0 0 0 0 7
Yale Center for Mendelian Genomics, Yale University 0 3 0 0 0 0 4 0 0 0 7
Genomic Medicine Lab, University of California San Francisco 5 2 0 0 0 0 0 0 0 0 7
Lifecell International Pvt. Ltd 1 6 0 0 0 0 0 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 7 7
Athena Diagnostics 0 0 0 0 6 0 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 4 0 0 0 0 0 0 0 0 6
Institute of Human Genetics, University of Goettingen 3 2 1 0 0 0 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 2 0 0 0 0 0 0 0 0 6
Institute of Human Genetics, Cologne University 2 3 1 0 0 0 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 6 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 6 0 0 0 0 0 0 0 6
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 4 0 0 0 0 0 0 0 6
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 4 2 0 0 0 0 0 0 0 0 6
Department of Surgery, The First Affiliated Hospital of Zhengzhou University 1 3 2 0 0 0 0 0 0 0 6
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 4 0 0 0 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 1 0 0 0 0 0 0 0 0 5
Undiagnosed Diseases Network, NIH 3 1 1 0 0 0 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 0 0 0 0 0 0 0 0 0 5
DASA 3 2 0 0 0 0 0 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 0 0 3 0 2 0 0 0 0 0 5
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 3 0 0 0 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 1 2 0 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 3 0 0 0 0 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 2 0 0 0 0 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 1 0 0 0 0 0 0 0 0 4
Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences 4 0 0 0 0 0 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 0 1 0 0 0 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 0 0 2 2 0 0 0 0 0 4
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 3 1 0 0 0 0 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 2 0 0 0 0 0 0 0 0 4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 4 0 0 0 0 0 0 0 0 0 4
Autoinflammatory diseases unit, CHU de Montpellier 4 0 0 0 0 0 0 0 0 0 4
Molecular Genetics Laboratory, Motol Hospital 2 2 0 0 0 0 0 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 2 0 0 0 0 0 0 0 4
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 3 1 0 0 0 0 0 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 0 4 4
Human Developmental Genetics Laboratory, Medical College of Wisconsin 3 0 0 0 0 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 2 1 0 0 0 0 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 2 0 0 0 0 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 2 0 0 0 0 0 0 0 3
Department of Endocrinology and Metabolism, The First Affiliated Hospital of Sun Yet-sen University 1 1 0 1 0 0 0 0 0 0 3
Hadassah Hebrew University Medical Center 1 2 0 0 0 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 2 0 0 0 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 2 0 0 0 0 0 0 0 3
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 2 0 0 0 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 0 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 0 0 0 0 0 0 0 0 3
Laboratory of Medical Genetics, University of Torino 1 2 0 0 0 0 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 2 0 1 0 0 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 1 0 0 0 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 3 0 0 0 0 0 0 0 0 0 3
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 3 0 0 0 0 0 0 0 0 0 3
Molecular Endocrinology Laboratory, Christian Medical College 0 1 2 0 0 0 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 1 2 0 0 0 0 0 0 0 3
Provincial Medical Genetics Program of British Columbia, University of British Columbia 3 0 0 0 0 0 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 1 1 0 0 0 0 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 1 2 0 0 0 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 0 0 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 0 0 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 2 0 0 0 0 0 0 0 0 0 2
Shaikh Laboratory, University of Colorado 0 2 0 0 0 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 2 0 0 0 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 0 0 0 0 2
GenePathDx, GenePath diagnostics 0 2 0 0 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 0 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 2 0 0 0 0 0 0 0 2
The Translational Medicine Center of Children Development and Disease, Fudan University 2 0 0 0 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 1 0 0 0 0 0 0 2
Myriad Genetics, Inc. 2 0 0 0 0 0 0 0 0 0 2
Department of Medical Genomics, Royal Prince Alfred Hospital 0 1 1 0 0 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 0 0 0 0 2
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 1 0 0 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 0 0 0 0 2
Department of Pediatric Endocrinology, Ondokuz Mayis University 2 0 0 0 0 0 0 0 0 0 2
Department of Pediatrics, Taipei Veterans General Hospital 1 1 0 0 0 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 2 0 0 0 0 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 0 0 0 0 2
Division of Pediatric Endocrinology and Diabetes, Ulm University Medical Center 2 0 0 0 0 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 0 0 0 0 0 2
Dr.Nikuei Genetic Center 0 0 0 2 0 0 0 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 1 0 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 1 0 0 0 0 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 0 1 0 0 0 0 0 0 0 1
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 1 0 0 0 0 0 0 0 0 0 1
State Key Lab of Medical Genetics, Central South University 1 0 0 0 0 0 0 0 0 0 1
Gromoll Lab CeRA, University of Muenster 0 0 0 0 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 0 0 0 1
Genologica Medica 0 1 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 0 0 0 0 1
Department of Molecular Endocrinology, National Research Institute for Child Health and Development 1 0 0 0 0 0 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 1 0 0 0 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 1 0 0 0 0 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 1 0 0 0 0 0 0 0 1
Human Molecular Genetics Lab, Quaid-I-Azam University 1 0 0 0 0 0 0 0 0 0 1
Research Centre for Medical Genetics, Research Centre for Medical Genetics 0 1 0 0 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 0 0 0 0 1
Key Laboratory of Endocrinology, Peking Union Medical College Hospital 0 1 0 0 0 0 0 0 0 0 1
Santos-Cortez Lab, University of Colorado School of Medicine 0 1 0 0 0 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 0 0 0 0 1
Gujarat Genomics Initiative, Gujarat State Biotechnology Mission 1 0 0 0 0 0 0 0 0 0 1
Center for Medical Genetics, Keio University School of Medicine 1 0 0 0 0 0 0 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 0 0 0 0 1
Fukami Lab, Dept of Molecular Endocrinology, National Research Institute for Child Health and Development 1 0 0 0 0 0 0 0 0 0 1
Pediatric Genomics Discovery Program, Yale University 1 0 0 0 0 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 0 0 0 1
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University 0 0 1 0 0 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 0 0 0 0 1
Clinical Immunology, Karolinska University Hospital 1 0 0 0 0 0 0 0 0 0 1
Genetic Outpatient Clinic, Children's Memorial Health Institute 0 1 0 0 0 0 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 0 0 0 0 0 1
School of Life Sciences, Central South University 1 0 0 0 0 0 0 0 0 0 1
Genetics, Children's Hospital New Orleans 0 0 1 0 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 0 0 0 0 1 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 1 0 0 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 0 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 0 0 1 0 0 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 1 0 0 0 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 0 0 0 0 1
Department of Endocrinology, Metabolism and Genetics, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University 0 1 0 0 0 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 0 0 1 0 0 0 0 0 0 0 1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 0 0 0 0 0 1 0 0 1
Institute of Biomedical Sciences, Faculty of Medicine, Vilnius university 1 0 0 0 0 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 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 0 0 1
Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University 1 0 0 0 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 0 0 1
Centre for Endocrinology, Queen Mary University of London 1 0 0 0 0 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 0 0 0 0 1
Hebei Industrial Technology Research Institute of Genomics in Maternal & Child Health, BGI Genomics 1 0 0 0 0 0 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 0 0 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 0 1 0 0 0 0 0 0 0 0 1

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