ClinVar Miner

Variants studied for neonatal-onset developmental and epileptic encephalopathy

Included ClinVar conditions (44):
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
611 424 3566 3773 536 69 8745

Gene and significance breakdown #

Total genes and gene combinations: 89
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CACNA1A 196 102 992 1112 132 7 2479
PLCB1 14 14 428 415 49 0 883
PNKP 67 16 351 410 36 0 880
SLC12A5 29 13 309 406 29 11 786
SLC13A5 34 26 257 283 22 0 605
KCNB1 35 44 207 253 86 0 599
DNM1 13 12 160 247 41 0 468
KCNA2 27 22 193 120 10 2 363
EEF1A2 11 13 96 212 32 2 357
SCN8A 36 72 65 5 10 38 201
NECAP1 3 1 77 64 3 0 147
WWOX 26 15 31 1 30 1 100
DNM1, LOC113839516 2 8 37 45 8 0 99
GRIN2D 6 8 46 7 2 1 67
CACNA1A, LOC130063717 0 0 34 22 0 0 55
EEF1A2, LOC132090595 1 0 25 23 3 0 52
HCN1 11 8 25 5 0 1 46
SLC1A2 4 6 27 3 6 0 45
CACNA1A, LOC126862864 5 4 19 16 1 1 43
TBC1D24 11 8 19 3 1 2 42
AARS1 11 3 17 8 1 2 41
CIZ1, DNM1 2 3 14 14 3 0 35
CACNA1A, LOC126862865 3 0 6 21 3 0 32
DNM1, LOC130002698 2 1 10 15 2 0 30
CACNA1A, LOC126862866 2 0 8 19 0 0 29
NPHP3-ACAD11, UBA5 16 8 7 0 1 0 29
LOC126861440, NECAP1 0 1 12 13 1 0 27
SLC25A12 7 4 11 0 3 1 26
DNM1, LOC130002699 1 0 11 9 3 0 24
FGF12 2 3 11 1 2 0 17
LOC113960611, SLC12A5 0 1 7 9 0 0 17
GABRB1 3 5 6 1 2 0 16
MAF, WWOX 1 1 4 1 8 0 14
CACNA1A, LOC108663985 0 0 0 3 3 0 6
KCNH5 6 0 0 0 0 0 6
GLUL 5 0 0 0 0 0 5
DNM1, LOC130002697 0 0 0 4 0 0 4
LOC114803470, SCN8A 0 0 3 1 0 0 4
LOC130065408, PLCB1 0 0 3 0 1 0 4
EEF1A2, KCNQ2 0 0 3 0 0 0 3
GRIN2D, LOC130064855 0 0 2 1 0 0 3
LOC130065410, PLCB1 0 0 1 1 1 0 3
BEST2, CACNA1A, CALR, DAND5, DHPS, DNASE2, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KLF1, LYL1, MAN2B1, MAST1, NACC1, NFIX, PRDX2, RAD23A, RNASEH2A, RTBDN, STX10, SYCE2, TNPO2, TRIR, TRMT1, WDR83, WDR83OS 1 0 1 0 0 0 2
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1 0 0 2 0 0 0 2
EEF1A2, PPDPF 0 0 2 0 0 0 2
GRIN2D, LOC130064857 2 1 0 0 0 0 2
LOC112486209, LOC132090435, WWOX 1 0 1 0 0 0 2
LOC130065980, SLC12A5 0 0 2 0 0 0 2
A2ML1, ACSM4, AICDA, APOBEC1, ATN1, C12orf57, C1R, C1RL, C1S, C3AR1, CD163, CD163L1, CDCA3, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, DPPA3, EMG1, ENO2, FAM90A1, FOXJ2, GDF3, GNB3, LPCAT3, LRRC23, MFAP5, MIR141, MIR200C, NANOG, NANOGNB, NECAP1, P3H3, PEX5, PHB2, PTPN6, RBP5, RIMKLB, SLC2A14, SLC2A3, SPSB2, TPI1, USP5, ZNF705A 0 0 1 0 0 0 1
A2ML1, ACSM4, AICDA, APOBEC1, C12orf57, C1R, C1RL, C1S, C3AR1, CD163, CD163L1, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, DPPA3, EMG1, FAM90A1, FOXJ2, GDF3, LPCAT3, MFAP5, MIR141, MIR200C, NANOG, NANOGNB, NECAP1, PEX5, PHB2, PTPN6, RBP5, RIMKLB, SLC2A14, SLC2A3, ZNF705A 1 0 0 0 0 0 1
ABHD16B, ADRM1, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CABLES2, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LAMA5, LIME1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, NKAIN4, NTSR1, OGFR, OSBPL2, PPDPF, PRPF6, PTK6, RBBP8NL, RPS21, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 0 1 0 0 0 1
ABHD16B, ADRM1, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CABLES2, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LAMA5, LIME1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, NKAIN4, NTSR1, OGFR, OSBPL2, PPDPF, PRPF6, PTK6, RBBP8NL, RPS21, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SRMS, STMN3, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 0 1 0 0 0 1
ABHD16B, ARFRP1, CHRNA4, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, PPDPF, PTK6, RTEL1, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, ZBTB46, ZGPAT 0 0 1 0 0 0 1
ACAD11, NPHP3-ACAD11, UBA5 1 0 0 0 0 0 1
ACADVL, AIPL1, ALOX12, ASGR1, ASGR2, BACC1, BCL6B, C17orf100, CLEC10A, DLG4, FBXO39, KIAA0753, MED31, MIR195, MIR497HG, PIMREG, PITPNM3, RNASEK, SLC13A5, SLC16A11, SLC16A13, TEKT1, TXNDC17, XAF1 0 0 1 0 0 0 1
ACOT8, ADA, ARFGEF2, B4GALT5, CCN5, CD40, CDH22, CSE1L, CTSA, DBNDD2, DDX27, DNTTIP1, ELMO2, EPPIN, EPPIN-WFDC6, EYA2, HNF4A, KCNB1, KCNK15, KCNS1, MATN4, MMP9, NCOA3, NCOA5, NEURL2, OCSTAMP, PABPC1L, PCIF1, PI3, PIGT, PKIG, PLTP, PREX1, PTGIS, RBPJL, RIMS4, RNF114, SDC4, SEMG1, SEMG2, SERINC3, SLC12A5, SLC13A3, SLC2A10, SLC35C2, SLC9A8, SLPI, SNX21, SPATA2, SPATA25, SPINT3, SPINT4, STAU1, STK4, SULF2, SYS1, TNNC2, TOMM34, TP53RK, TP53TG5, TTPAL, UBE2C, WFDC10A, WFDC10B, WFDC11, WFDC12, WFDC13, WFDC2, WFDC3, WFDC5, WFDC6, WFDC8, WFDC9, YWHAB, ZMYND8, ZNF334, ZNF335, ZNF840P, ZNFX1, ZSWIM1, ZSWIM3 1 0 0 0 0 0 1
ACP5, ANGPTL8, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KANK2, KLF1, LDLR, LYL1, MAN2B1, MAST1, MIR199A1, NACC1, NFIX, ODAD3, PRDX2, PRKCSH, RAB3D, RAD23A, RGL3, RNASEH2A, RTBDN, SMARCA4, SPC24, STX10, SWSAP1, SYCE2, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878 0 0 1 0 0 0 1
ACVR1B, ACVRL1, ANKRD33, FIGNL2, SCN8A 0 1 0 0 0 0 1
ADM5, AKT1S1, ALDH16A1, AP2A1, BCL2L12, CD37, CPT1C, DKKL1, FCGRT, FLT3LG, FUZ, IL4I1, IRF3, KASH5, MED25, MIR150, NOSIP, NUP62, PIH1D1, PNKP, PRMT1, PRR12, PRRG2, PTH2, PTOV1, RCN3, RPL13A, RPS11, RRAS, SCAF1, SLC17A7, SLC6A16, TBC1D17, TEAD2, TRPM4, TSKS 0 0 1 0 0 0 1
ADM5, ALDH16A1, AP2A1, BCL2L12, C19orf73, CD37, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CPT1C, DKKL1, FCGRT, FLT3LG, FUZ, HRC, IRF3, KASH5, KCNA7, LHB, LIN7B, MED25, MIR150, NOSIP, NTF4, PIH1D1, PNKP, PPFIA3, PRMT1, PRR12, PRRG2, PTH2, PTOV1, RCN3, RPL13A, RPS11, RRAS, SCAF1, SLC17A7, SLC6A16, SNRNP70, TEAD2, TRPM4, TSKS 0 0 1 0 0 0 1
AIPL1, C17orf100, C1QBP, DERL2, DHX33, KIAA0753, MED31, MIS12, NLRP1, NUP88, PIMREG, PITPNM3, RPAIN, SLC13A5, TXNDC17, WSCD1 0 0 1 0 0 0 1
AIPL1, C17orf100, KIAA0753, MED31, PIMREG, PITPNM3, SLC13A5, TXNDC17 1 0 0 0 0 0 1
AK1, ANGPTL2, BBLN, CDK9, CFAP157, CIZ1, DNM1, DPM2, EEIG1, ENG, FPGS, GARNL3, LCN2, LMX1B, LRSAM1, MIR199B, MIR2861, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, RALGPS1, RPL12, SH2D3C, SLC25A25, SLC2A8, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16, ZBTB34, ZBTB43, ZNF79 0 0 1 0 0 0 1
AK1, BBLN, CDK9, CERCAM, CFAP157, CIZ1, COQ4, DNM1, DPM2, EEIG1, ENG, FPGS, GLE1, GOLGA2, LCN2, MIR199B, MIR2861, NAIF1, ODF2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, SLC27A4, SPTAN1, ST6GALNAC4, ST6GALNAC6, STXBP1, SWI5, TOR2A, TRUB2, TTC16, URM1 1 0 0 0 0 0 1
ALDH7A1 1 0 0 0 0 0 1
ALX3, KCNA10, KCNA2, KCNC4, LAMTOR5, PROK1, RBM15, SLC16A4, SLC6A17, UBL4B 1 0 0 0 0 0 1
ANKEF1, HAO1, JAG1, LAMP5, MKKS, PAK5, PLCB1, PLCB4, SLX4IP, SNAP25, TMX4 1 0 0 0 0 0 1
ARFGAP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, EEF1A2, GID8, HAR1A, HAR1B, KCNQ2, NKAIN4, SLC17A9, TCFL5, YTHDF1 0 0 1 0 0 0 1
ARFGEF2, CSE1L, DDX27, KCNB1, STAU1, ZNFX1 0 0 1 0 0 0 1
BEST2, CACNA1A, CALR, DAND5, DHPS, DNASE2, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KLF1, LYL1, MAN2B1, MAST1, NACC1, NFIX, PRDX2, RAD23A, RNASEH2A, RTBDN, STX10, SYCE2, TNPO2, TRIR, TRMT1, WDR83, WDR83OS, ZNF490, ZNF564, ZNF791 1 0 0 0 0 0 1
C3AR1, CLEC4C, DPPA3, FOXJ2, GDF3, NANOG, NANOGNB, NECAP1, SLC2A14, SLC2A3 0 0 1 0 0 0 1
C3AR1, NECAP1 0 0 1 0 0 0 1
CACNA1A, IER2, NACC1, STX10 0 0 1 0 0 0 1
CHRNA4, EEF1A2, KCNQ2, PPDPF 0 0 1 0 0 0 1
CIZ1, DNM1, MIR199B 0 0 1 0 0 0 1
CLEC3A, LOC110120570, LOC112486209, LOC121587562, LOC125177355, LOC126862410, LOC126862411, LOC130059456, LOC130059457, LOC130059458, LOC130059459, LOC132090417, LOC132090418, LOC132090419, LOC132090420, LOC132090421, LOC132090422, LOC132090423, LOC132090424, LOC132090425, LOC132090426, LOC132090427, LOC132090428, LOC132090429, LOC132090430, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, LOC132090888, VAT1L, WWOX 0 0 1 0 0 0 1
DDX27, KCNB1, LOC112694720, LOC130066087, LOC130066088, LOC130066089, LOC130066090, LOC130066091, SNORD12, SNORD12B, SNORD12C, STAU1, ZFAS1, ZNFX1 0 0 1 0 0 0 1
DNM1, MIR199B, MIR3154 0 0 1 0 0 0 1
EEF1A2, KCNQ2, LOC129391211, LOC129391212 0 0 1 0 0 0 1
EEF1A2, KCNQ2, LOC129391211, LOC129391212, LOC130066357, LOC132090595, LOC132090596, PPDPF, PTK6 0 0 1 0 0 0 1
LOC110120570, LOC112486209, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 1 0 0 0 0 0 1
LOC121530581, LOC130057054, LOC130057055, LOC130057056, LOC130057057, LOC130057058, LOC130057059, LOC130057060, LOC130057061, LOC130057062, LOC130057063, LOC130057064, LYSMD2, SCG3, TMOD2 0 0 1 0 0 0 1
LOC125177355, LOC132090431, LOC132090432, LOC132090433, LOC132090434, WWOX 1 0 0 0 0 0 1
LOC125384577, PLCB1, RNU105B 0 0 1 0 0 0 1
LOC129937585, NPHP3-ACAD11, UBA5 1 0 0 0 0 0 1
LOC132090428, LOC132090429, WWOX 1 0 0 0 0 0 1
LOC132090430, WWOX 1 0 0 0 0 0 1
MED25, PNKP, PTOV1 1 0 0 0 0 0 1
NCF2 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 143
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 400 139 2989 3702 439 0 7669
Genome-Nilou Lab 3 3 31 4 110 0 151
Fulgent Genetics, Fulgent Genetics 9 6 72 46 8 0 141
Institute of Human Genetics, University of Leipzig Medical Center 24 40 51 2 1 0 118
Baylor Genetics 21 20 75 0 0 0 115
Illumina Laboratory Services, Illumina 2 3 97 7 6 0 115
OMIM 102 0 0 0 0 0 102
Neuberg Centre For Genomic Medicine, NCGM 4 4 62 0 0 0 70
New York Genome Center 4 2 56 0 0 0 62
Revvity Omics, Revvity 2 1 54 1 0 0 58
GeneReviews 1 0 0 0 0 47 48
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 7 23 1 0 0 47
Mendelics 13 17 6 3 1 0 40
3billion 10 7 15 6 0 0 38
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 27 4 0 0 33
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 8 9 12 0 1 0 30
Génétique des Maladies du Développement, Hospices Civils de Lyon 12 8 2 1 0 0 23
MGZ Medical Genetics Center 3 7 10 0 0 0 20
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 2 11 2 0 0 20
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 13 7 0 0 0 0 20
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 17 0 0 0 0 17
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 6 10 0 0 0 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 5 0 0 0 0 16
Juno Genomics, Hangzhou Juno Genomics, Inc 7 3 5 0 0 0 15
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 4 7 0 0 0 14
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 7 7 0 0 0 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 8 0 2 0 13
Undiagnosed Diseases Network, NIH 8 4 1 0 0 0 13
Centogene AG - the Rare Disease Company 1 3 7 0 0 0 11
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 3 7 0 0 0 11
GenomeConnect - Brain Gene Registry 0 0 0 0 0 11 11
MVZ Medizinische Genetik Mainz 1 0 9 0 0 0 10
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 4 3 0 0 0 9
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 3 5 0 0 0 9
Solve-RD Consortium 0 9 0 0 0 0 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 5 2 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 5 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 5 0 0 0 7
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 7 0 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 6 0 7
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 1 3 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 4 0 0 0 0 6
Simons Lab, The University of Queensland 5 1 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 4 0 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 5 0 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 2 1 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 2 1 0 0 6
Genetic Services Laboratory, University of Chicago 1 4 0 0 0 0 5
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 4 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 0 2 3 0 0 0 5
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 2 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 1 0 0 4
Duke University Health System Sequencing Clinic, Duke University Health System 1 3 0 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Breda Genetics srl 0 1 3 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 3 0 0 0 4
Molecular Genetics Lab, CHRU Brest 2 2 0 0 0 0 4
Pediatric Department, Xiangya Hospital, Central South University 2 2 0 0 0 0 4
Neurogenetics, Research Centre for Medical Genetics 0 3 1 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 1 0 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 2 0 0 0 0 3
Institute of Human Genetics, Cologne University 0 2 1 0 0 0 3
Blueprint Genetics 1 2 0 0 0 0 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 1 0 1 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 2 0 0 0 3
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 3 0 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 2 0 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 2 0 0 0 3
Division of Medical Genetics; Sainte-Justine Hospital 3 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 3
Laboratory of Medical Genetics, University of Torino 1 2 0 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 3 0 0 0 0 3
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 1 0 0 0 3
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 1 1 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 1 0 1 1 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 1 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 2 0 0 0 3
DASA 1 2 0 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 1 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 0 2
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 1 1 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 0 2 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 1 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 0 1 0 0 2
University of British Columbia, BC Children's Hospital 0 2 0 0 0 0 2
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 2 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 1 0 0 0 1
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
National Institute for Data Science in Health and Medicine, School of Medicine, Xiamen University 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 1 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 0 1 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1
Massachusetts General Hospital Undiagnosed Diseases Network, Massachusetts General Hospital 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Pediatric EEG Lab, Tongji Hospital, Huazhong University of Science and Technology 1 0 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 1 0 0 0 0 1
Laboratory of Molecular Instruments for Neurobiology, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry of the Russian Academy of Sciences 0 1 0 0 0 0 1

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