ClinVar Miner

Variants studied for nutritional disorder

Included ClinVar conditions (117):
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 likely risk allele protective risk factor not provided total
1366 1006 5243 6723 1363 1 2 11 105 14740

Gene and significance breakdown #

Total genes and gene combinations: 168
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele protective risk factor not provided total
CACNA1S 73 45 730 1056 206 0 0 0 9 1910
CUBN 66 69 657 434 155 0 0 0 3 1268
HCFC1 6 1 113 672 255 0 0 0 0 1033
ALDH7A1 126 77 340 389 52 0 0 0 4 917
MTR 58 29 199 574 66 0 0 0 0 914
HLCS 91 119 264 430 50 0 0 0 0 871
MTRR 75 29 159 481 50 0 0 0 1 777
BTD 167 167 194 200 14 0 0 0 6 604
TCN2 48 8 202 310 41 0 0 0 2 581
MMAA 81 61 171 197 22 0 0 0 16 499
MMACHC 95 75 112 190 10 0 0 0 3 430
AMN 28 28 59 295 25 0 0 0 1 420
LMBRD1 28 22 110 235 24 0 0 0 2 407
MMAB 62 44 131 174 36 0 0 0 12 396
PNPO 26 18 146 134 20 0 0 0 3 332
MMADHC 43 30 60 169 17 0 0 0 7 305
ABCD4 18 10 116 112 33 0 0 0 0 279
GH-LCR, SCN4A 13 3 134 62 68 0 0 0 6 278
FOLR1 16 3 112 83 5 0 0 0 0 209
SLC52A1 3 0 107 56 12 0 0 0 0 177
VDR 21 8 123 14 16 0 0 0 1 177
SCN4A 6 1 77 33 29 0 0 0 8 145
TTPA 16 41 70 6 10 0 0 0 15 135
CBLIF 7 5 58 44 12 0 0 0 3 120
CD320 1 1 65 37 19 0 0 0 0 120
CAST, LOC101929710, PCSK1 12 7 85 7 4 0 0 0 0 115
TCN1 4 0 44 46 9 0 0 0 0 103
CYP27B1 26 18 40 10 2 1 0 0 0 91
AMN, LOC130056554 5 5 13 62 1 0 0 0 0 84
LEPR 5 3 61 9 7 0 0 0 0 82
LEP 4 1 62 6 3 0 0 0 0 76
MMAB, MVK 11 8 20 36 8 0 0 0 1 76
MC4R 19 18 46 3 5 0 2 0 1 73
SIM1 1 0 48 7 15 0 0 0 0 71
LOC129930446, MMACHC 23 12 14 18 0 0 0 0 0 57
LCT 0 0 40 8 7 0 0 0 0 55
POMC 8 0 28 6 4 0 0 0 0 42
LOC121853040, TCN2 1 0 19 18 4 0 0 0 0 41
HCFC1, LOC130068842 0 0 4 14 12 0 0 0 0 30
ENPP1 1 1 15 8 1 0 0 3 0 29
CYP2R1, PDE3B 4 3 12 8 0 0 0 0 0 25
PLPBP 10 4 8 0 1 0 0 0 0 22
PPARG 1 1 12 6 2 0 0 0 0 21
AMN, LOC130056553 1 1 2 16 2 0 0 0 0 20
CUBN, LOC126860871 1 2 5 7 3 0 0 0 0 17
LOC129932886, MTR 1 1 2 13 0 0 0 0 0 17
ALDH7A1, LOC112997555 0 0 12 1 2 0 0 0 0 15
DYRK1B 2 0 12 0 0 0 0 0 0 14
LOC126806368, MMADHC 1 1 2 8 2 0 0 0 0 14
UCP3 1 0 9 4 0 0 0 0 0 14
CUBN, LOC129390143 0 0 8 4 2 0 0 0 0 13
​intergenic 3 2 5 0 0 0 0 2 0 12
NR0B2, NUDC 1 2 8 0 0 0 0 0 0 11
MTTP 1 2 4 0 1 0 0 0 0 8
HLCS, LOC130066639 0 0 1 0 6 0 0 0 0 7
LIPE, LOC101930071 3 2 3 0 0 0 0 0 0 7
CACNA1S, LOC101929305 0 0 6 0 0 0 0 0 0 6
LCT, LOC126806353 0 0 3 1 2 0 0 0 0 6
LEPR, LEPROT 0 0 4 1 1 0 0 0 0 6
LOC113788277, PLPBP 0 0 6 0 0 0 0 0 0 6
LEPR, LOC122094844 0 0 4 0 1 0 0 0 0 5
LOC129993163, MMAA 0 0 5 0 0 0 0 0 0 5
MCM6 0 0 5 0 0 0 0 0 0 5
MMACHC, PRDX1 4 0 1 0 0 0 0 0 0 5
CELA2A 4 0 0 0 0 0 0 0 0 4
GHRL, GHRLOS 0 0 1 1 0 0 0 2 0 4
LOC108167315, POMC 1 0 3 0 1 0 0 0 0 4
LOC126806368, MMADHC, MMADHC-DT 0 0 3 1 0 0 0 0 0 4
LOC129933280, POMC 2 1 1 1 0 0 0 0 0 4
ADRB3 0 0 2 0 0 0 0 1 0 3
BDNF 0 1 1 0 1 0 0 0 0 3
CEP19 1 0 1 0 1 0 0 0 0 3
AGRP, ATP6V0D1-DT 1 0 1 0 1 0 0 0 0 2
LIPE 0 1 2 0 0 0 0 0 0 2
LOC130007784, VDR 0 0 2 0 0 0 0 0 0 2
MT-TF 1 0 1 0 0 0 0 0 0 2
PRMT7 2 0 0 0 0 0 0 0 0 2
SLC12A3 1 0 1 0 0 0 0 0 0 2
TSEN54 2 0 0 0 0 0 0 0 0 2
ACRBP, ACSM4, ADIPOR2, AKAP3, ANO2, APOBEC1, ATN1, B4GALNT3, C12orf57, C1R, C1RL, C1S, C3AR1, CACNA1C, CACNA2D4, CCDC77, CCND2, CD163, CD163L1, CD27, CD4, CD9, CDCA3, CHD4, CLEC4A, CLEC4C, CLSTN3, COPS7A, CRACR2A, DCP1B, DPPA3, DYRK4, EMG1, ENO2, ERC1, FBXL14, FERRY3, FGF23, FGF6, FKBP4, FOXJ2, FOXM1, GALNT8, GAPDH, GDF3, GNB3, GPR162, IFFO1, ING4, IQSEC3, ITFG2, KCNA1, KCNA5, KCNA6, KDM5A, LAG3, LPAR5, LPCAT3, LRRC23, LRTM2, LTBR, MIR141, MIR200C, MLF2, MRPL51, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NINJ2, NOP2, NRIP2, NTF3, P3H3, PARP11, PEX5, PHB2, PIANP, PLEKHG6, PRMT8, PTMS, PTPN6, RAD51AP1, RAD52, RBP5, RHNO1, SCNN1A, SLC2A14, SLC2A3, SLC6A12, SLC6A13, SPSB2, TAPBPL, TEAD4, TIGAR, TNFRSF1A, TPI1, TSPAN9, TULP3, USP5, VAMP1, VWF, WNK1, WNT5B, ZNF384, ZNF705A 1 0 0 0 0 0 0 0 0 1
ADIPOR1, ADORA1, ARL8A, ASCL5, ATP2B4, AVPR1B, BTG2, C1orf116, C4BPA, C4BPB, CACNA1S, CAMSAP2, CD34, CD46, CD55, CDK18, CHI3L1, CHIT1, CNTN2, CR1, CR1L, CR2, CSRP1, CTSE, CYB5R1, DDX59, DSTYK, DYRK3, EIF2D, ELF3, ELK4, ETNK2, FAM72A, FCAMR, FCMR, FMOD, GOLT1A, GPR25, GPR37L1, IGFN1, IKBKE, IL10, IL19, IL20, IL24, INAVA, IPO9, KDM5B, KIF14, KIF21B, KISS1, KLHDC8A, KLHL12, LAD1, LAX1, LEMD1, LGR6, LMOD1, LRRN2, MAPKAPK2, MDM4, MFSD4A, MIR29B2CHG, MIR29C, MYBPH, MYOG, NAV1, NFASC, NUAK2, NUCKS1, OPTC, PCAT6, PFKFB2, PHLDA3, PIGR, PIK3C2B, PKP1, PLEKHA6, PLXNA2, PM20D1, PPFIA4, PPP1R12B, PPP1R15B, PRELP, PTPN7, RAB29, RABIF, RASSF5, RBBP5, REN, RHEX, RNPEP, SHISA4, SLC26A9, SLC41A1, SLC45A3, SNRPE, SOX13, SRGAP2, SYT2, TIMM17A, TMCC2, TMEM183A, TMEM81, TMEM9, TNNI1, TNNT2, UBE2T, YOD1, ZBED6, ZC3H11A 0 0 1 0 0 0 0 0 0 1
AGPAT5, ANGPT2, ARHGEF10, CLN8, CSMD1, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DLGAP2, ERICH1, FBXO25, KBTBD11, MCPH1, MYOM2, OR4F21, TDRP, USP17L1, USP17L4, XKR5, ZNF596 1 0 0 0 0 0 0 0 0 1
AHDC1 0 1 0 0 0 0 0 0 0 1
ALDH7A1, LOC129994503 0 0 0 0 1 0 0 0 0 1
ALDH7A1, PHAX 1 0 0 0 0 0 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 0 0 0 0 1
AMN, CDC42BPB, LOC130056553 1 1 0 0 0 0 0 0 1 1
AMN, LOC126862065, LOC130056550, LOC130056551, LOC130056552, LOC130056553, LOC130056554, TRAF3 1 0 0 0 0 0 0 0 0 1
ANAPC15, DEFB108B, DHCR7, FAM86C1P, FOLR1, FOLR3, IL18BP, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LRTOMT, NADSYN1, NUMA1, RNF121, ZNF705E 0 0 1 0 0 0 0 0 0 1
ANKRD24, CREB3L3, EBI3, EEF2, FSD1, MAP2K2, MPND, PIAS4, SHD, SIRT6, STAP2, TMIGD2, YJU2, ZBTB7A 1 0 0 0 0 0 0 0 0 1
ARHGAP10, C4orf51, EDNRA, LSM6, MMAA, NR3C2, POU4F2, PRMT9, SLC10A7, TMEM184C, TTC29, ZNF827 1 0 0 0 0 0 0 0 0 1
BBIP1 1 0 0 0 0 0 0 0 0 1
BRCA2 1 0 0 0 0 0 0 0 0 1
BTD, COLQ, HACL1 1 0 0 0 0 0 0 0 0 1
CACNB2, CUBN, HACD1, SLC39A12, ST8SIA6, STAM, TRDMT1, VIM 0 0 1 0 0 0 0 0 0 1
CARTPT 0 0 1 0 0 0 0 1 0 1
CBR1, CBR3, CHAF1B, CLDN14, DOP1B, HLCS, MORC3, SETD4, SIM2 0 0 1 0 0 0 0 0 0 1
CDH10, CDH12, LINC02899, PRDM9 0 0 1 0 0 0 0 0 0 1
CDKAL1 0 0 0 0 0 0 0 1 0 1
CDR2, EEF2K, MOSMO, NPIPB4, NPIPB5, OTOA, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A 1 0 0 0 0 0 0 0 0 1
CENPT, THAP11 0 1 0 0 0 0 0 0 0 1
CHAF1B, CLDN14, HLCS, MORC3, SIM2 1 0 0 0 0 0 0 0 0 1
CLCN1, LOC123956257 1 0 0 0 0 0 0 0 0 1
CLDN10 0 0 1 0 0 0 0 0 0 1
CLPB, FOLR1, FOLR2, INPPL1, PHOX2A 1 0 0 0 0 0 0 0 0 1
COL19A1, COL9A1, LMBRD1 1 0 0 0 0 0 0 0 0 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 1 0 0 0 0 0 0 0 0 1
CYP2R1, LOC130005371, PDE3B 0 0 0 1 0 0 0 0 0 1
DCDC2C 0 0 1 0 0 0 0 0 0 1
DDHD2 1 0 0 0 0 0 0 0 0 1
DEAF1 0 0 0 1 0 0 0 0 0 1
DIP2C 0 0 1 0 0 0 0 0 0 1
DIXDC1 0 1 0 0 0 0 0 0 0 1
DNM1L 0 1 0 0 0 0 0 0 0 1
DNMT3A 1 0 0 0 0 0 0 0 0 1
EMC1 0 1 0 0 0 0 0 0 0 1
FBXO11 0 1 0 0 0 0 0 0 0 1
FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 0 0 0 1
GAD1 0 0 1 0 0 0 0 0 0 1
GLDC 1 0 0 0 0 0 0 0 0 1
GNAS 1 0 0 0 0 0 0 0 0 1
GRIA4 0 1 0 0 0 0 0 0 0 1
GRIN2A 0 0 1 0 0 0 0 0 0 1
KCNH2 0 1 0 0 0 0 0 0 0 1
KIF4A 0 0 1 0 0 0 0 0 0 1
KSR2 0 0 1 0 0 0 0 0 0 1
LEP, LOC106728418 0 0 0 1 0 0 0 0 0 1
LOC114803475, PPARG 0 0 1 0 0 0 0 0 0 1
LOC121852937, PNPO 0 0 0 1 0 0 0 0 0 1
LOC122152347, LOC129932886, MTR 1 0 0 0 0 0 0 0 0 1
LOC126806660, ULK4 0 0 1 0 0 0 0 0 0 1
LOC126862765, ZNF532 0 0 1 0 0 0 0 0 0 1
LOC129993631, MTRR 0 0 0 0 1 0 0 0 0 1
LRP5 0 0 1 0 0 0 0 0 0 1
MC3R 0 0 0 1 0 0 0 0 0 1
MLKL 0 0 0 1 0 0 0 0 0 1
MT-CYB 0 0 0 0 0 0 0 1 0 1
MYH10 0 0 1 0 0 0 0 0 0 1
MYH9 0 1 0 0 0 0 0 0 0 1
NAV3 0 0 1 0 0 0 0 0 0 1
NRXN1 0 1 0 0 0 0 0 0 0 1
NTRK2 0 0 1 0 0 0 0 0 0 1
PAX8 0 0 1 0 0 0 0 0 0 1
PHEX, PTCHD1 0 1 0 0 0 0 0 0 0 1
PHYH 0 0 0 0 1 0 0 0 0 1
PNKP 0 0 1 0 0 0 0 0 0 1
POGZ 0 1 0 0 0 0 0 0 0 1
POLG 1 0 0 0 0 0 0 0 0 1
POMT1 0 0 1 0 0 0 0 0 0 1
PRDX1 0 0 0 0 1 0 0 0 0 1
PRSS1, TRB 1 0 0 0 0 0 0 0 0 1
PRTG 0 0 1 0 0 0 0 0 0 1
PYY 0 0 1 0 0 0 0 0 0 1
RANBP2 0 0 1 0 0 0 0 0 0 1
RSRC2 0 1 0 0 0 0 0 0 0 1
RYR1 0 0 1 0 0 0 0 0 0 1
SCAPER 1 0 0 0 0 0 0 0 0 1
SCN1A 0 1 0 0 0 0 0 0 0 1
SCN2A 0 0 1 0 0 0 0 0 0 1
SLC25A26 0 0 1 0 0 0 0 0 0 1
SLC32A1 0 0 1 0 0 0 0 0 0 1
SMARCA4 0 0 1 0 0 0 0 0 0 1
SREBF1 0 0 1 0 0 0 0 0 0 1
SYNE2 0 0 1 0 0 0 0 0 0 1
SZT2 0 0 1 0 0 0 0 0 0 1
TBX3 0 0 0 0 1 0 0 0 0 1
TF 0 0 1 0 0 0 0 0 0 1
ZNF778 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 178
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele protective risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 961 295 3080 6314 949 0 0 0 0 11599
Illumina Laboratory Services, Illumina 14 6 1465 236 528 0 0 0 0 2244
Fulgent Genetics, Fulgent Genetics 71 49 564 274 15 0 0 0 0 973
Genome-Nilou Lab 58 52 244 203 202 0 0 0 0 759
Baylor Genetics 192 237 62 0 0 0 0 0 0 491
Natera, Inc. 64 19 217 70 73 0 0 0 0 443
Counsyl 41 131 124 7 0 0 0 0 0 303
OMIM 217 0 2 0 0 0 0 8 0 227
Revvity Omics, Revvity 51 31 111 1 0 0 0 0 0 194
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 101 65 2 2 0 0 0 0 1 171
Myriad Genetics, Inc. 14 60 4 0 0 0 0 0 0 78
GeneReviews 2 0 0 0 0 0 0 0 74 76
Mendelics 32 12 13 5 12 0 0 0 0 74
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 10 2 12 11 35 0 0 0 0 70
New York Genome Center 4 4 48 0 0 0 0 0 0 56
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 49 0 0 0 0 0 0 0 49
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 16 11 19 0 2 0 0 0 0 48
Neuberg Centre For Genomic Medicine, NCGM 13 15 16 0 1 0 0 0 0 45
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 20 18 0 0 0 0 0 0 0 38
Institute of Human Genetics, University of Leipzig Medical Center 8 3 20 2 0 0 0 0 0 33
Baumgartner lab, University Children's Hospital Zurich 33 0 0 0 0 0 0 0 0 33
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 17 3 11 0 0 0 0 0 0 31
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 7 11 13 0 0 0 0 0 0 31
3billion 16 8 7 0 0 0 0 0 0 31
Centre for Mendelian Genomics, University Medical Centre Ljubljana 17 5 6 1 0 0 0 0 0 29
Genomic Research Center, Shahid Beheshti University of Medical Sciences 9 3 12 1 0 0 0 0 0 25
Pars Genome Lab 0 0 1 4 20 0 0 0 0 25
Athena Diagnostics 0 0 0 0 22 0 0 0 0 22
MGZ Medical Genetics Center 7 6 8 0 0 0 0 0 0 21
University Children's Hospital, University of Zurich 19 0 1 0 0 0 0 0 0 20
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 10 0 9 0 0 0 0 0 0 19
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 10 7 2 0 0 0 0 0 0 19
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 7 6 0 3 0 0 0 0 19
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 4 11 0 0 0 0 17
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 7 2 6 0 0 0 0 0 0 15
Elsea Laboratory, Baylor College of Medicine 7 0 6 0 0 0 0 0 0 13
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 7 6 0 0 0 0 0 0 0 13
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 0 0 0 12 12
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 10 2 0 0 0 0 0 0 0 12
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 5 3 4 0 0 0 0 0 0 12
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 5 1 0 0 0 0 0 0 12
SingHealth Duke-NUS Institute of Precision Medicine 2 3 6 0 0 0 0 0 0 11
Dash Lab, University Health Network 0 7 2 0 2 0 0 0 0 11
Center of Excellence for Medical Genomics, Chulalongkorn University 7 4 0 0 0 0 0 0 0 11
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 11 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 3 6 0 0 0 0 10
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 3 2 5 0 0 0 0 0 0 10
Genetics and Molecular Pathology, SA Pathology 4 1 5 0 0 0 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 10 10
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 8 1 1 0 0 0 0 0 0 10
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 6 0 0 0 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 7 1 1 0 0 0 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 7 0 0 0 0 0 0 9
DASA 8 1 0 0 0 0 0 0 0 9
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 2 7 0 0 0 0 0 0 0 9
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories 8 0 0 0 0 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 6 2 0 0 0 0 0 0 0 8
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 6 2 0 0 0 0 0 0 0 8
Centogene AG - the Rare Disease Company 3 1 4 0 0 0 0 0 0 8
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 7 0 0 0 0 0 0 0 0 7
Neurology Department, Peking University First Hospital 6 0 1 0 0 0 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 2 3 0 0 0 0 7
Lifecell International Pvt. Ltd 3 4 0 0 0 0 0 0 0 7
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 5 0 0 0 0 0 0 6
FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre 1 2 3 0 0 0 0 0 0 6
Suma Genomics 4 1 1 0 0 0 0 0 0 6
MVZ Medizinische Genetik Mainz 4 1 1 0 0 0 0 0 0 6
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 4 0 0 0 0 0 0 5
Division of Human Genetics, Children's Hospital of Philadelphia 4 0 1 0 0 0 0 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 2 0 0 0 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 1 0 0 0 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 3 0 0 0 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 2 1 2 0 0 0 0 0 0 5
Molecular Endocrinology Laboratory, Christian Medical College 0 2 3 0 0 0 0 0 0 5
Arcensus 1 4 0 0 0 0 0 0 0 5
Claritas Genomics 3 0 1 0 0 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 3 0 0 0 0 0 0 4
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 3 0 0 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 4 0 0 0 0 0 0 4
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 2 2 0 0 0 0 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 1 2 0 0 0 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 2 0 0 0 0 0 0 0 3
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 1 0 0 0 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 2 0 0 0 0 0 0 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 1 0 0 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 1 0 2 0 0 0 0 0 0 3
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 1 0 0 0 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 1 0 0 0 0 3
Department of Endocrinology, The Second Hospital of Jilin University 0 0 0 0 0 0 0 3 0 3
Clinical Genomics Laboratory, Stanford Medicine 3 0 0 0 0 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 3 0 0 0 0 0 0 0 0 3
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 0 0 3 0 0 0 0 0 0 3
Department of Paediatrics, National University Hospital 0 2 0 1 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 0 0 0 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 1 0 0 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 1 0 0 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 0 0 0 2
UCL Genetics Institute, UCL 0 0 0 0 0 0 2 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 2 0 0 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 0 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 0 0 0 2
American University of Beirut, Same Uiversity Hospital 2 0 0 0 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 0 0 0 2
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 2 0 0 0 0 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 1 0 0 0 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 1 0 0 0 0 0 0 0 2
Breda Genetics srl 0 1 1 0 0 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 1 0 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 0 0 0 0 0 2
Precision Medicine Center, Zhengzhou University 1 0 1 0 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 1 0 0 0 0 2
Eurofins-Biomnis 1 1 0 0 0 0 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 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 2
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 1 0 0 0 0 0 0 2
Dr.Nikuei Genetic Center 1 1 0 0 0 0 0 0 0 2
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 1 1 0 0 0 0 0 0 0 2
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 1 0 0 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 0 0 0 1
Sidra Medicine 0 0 0 1 0 0 0 0 0 1
Medical Research Institute, Tokyo Medical and Dental University 1 0 0 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 0 1 0 0 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 0 1 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 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 1
Department of Medical Genetics, Gazi University 1 0 0 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 1 0 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 0 0 1
Gujarat Genomics Initiative, Gujarat State Biotechnology Mission 1 0 0 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 0 0 1
Department of biochemistry and genetics, Arak University of Medical sciences 0 1 0 0 0 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 0 0 1
Biochemistry and Molecular Biology, CHU de Limoges 1 0 0 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 1 0 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 0 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 1 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 0 1
Molecular Lab, Department of Haematology, Christian Medical College 0 0 1 0 0 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 0 0 0 1
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 0 0 0 0 0 1 0 0 0 1
Department of Hematology, Children's Hospital Affiliated to Kunming Medical University 1 0 0 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 0 0 0 1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 0 1 0 0 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 1 0 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 1 0 0 0 0 0 0 1
Laboratory of Molecular Genetics, Research Center of Neurology 1 0 0 0 0 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 0 1 0 0 0 0 0 0 1
Centre de Recherche et de Formation en Génétique Médicale et en Neurosciences, Université des Sciences, des Techniques et des Technologies de Bamako 0 0 1 0 0 0 0 0 0 1

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