ClinVar Miner

Variants studied for retinitis pigmentosa

Included ClinVar conditions (154):
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 not provided total
2647 2469 7017 3620 1150 1 34 15929

Gene and significance breakdown #

Total genes and gene combinations: 260
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
USH2A 379 635 743 186 93 0 4 1806
CRB1 314 156 498 725 34 0 1 1634
EYS 170 323 445 84 68 0 0 979
IFT172 43 26 458 421 26 0 0 952
HGSNAT 92 35 260 484 22 0 0 878
RPE65 153 39 251 363 25 0 0 786
DHDDS 18 20 214 251 9 0 0 496
CRX 52 18 220 106 72 0 0 429
RPGR 164 124 25 7 5 0 0 310
CNGB1 29 35 168 27 39 0 1 276
PCARE 23 19 151 23 49 0 0 261
PDE6A 40 24 130 12 28 0 0 218
PDE6B 40 37 130 13 7 0 2 215
ARL6 28 10 77 99 4 0 0 213
FAM161A 19 55 119 19 17 0 0 212
RHO 63 73 67 12 13 0 4 204
RP1 52 47 80 20 15 0 0 199
IMPG2 20 8 136 10 15 0 0 187
CERKL 31 78 76 12 15 0 0 184
ABCA4 95 55 30 0 20 0 3 183
IFT140 6 21 110 38 7 0 1 181
CDHR1 15 10 130 11 11 0 0 172
PRPF31 52 50 49 10 13 0 0 169
IFT172, KRTCAP3 12 7 74 68 7 0 0 161
PRPF8 14 10 88 24 30 0 1 161
EYS, PHF3 45 68 57 9 3 0 0 153
PROM1 24 10 103 3 13 0 3 153
RBP3 7 5 120 7 9 0 2 144
PRPH2 25 28 55 16 35 0 1 141
MERTK 32 23 64 10 17 0 0 139
IFT172, LOC126806173 9 3 68 56 5 0 1 138
SNRNP200 11 9 81 24 17 0 0 132
NR2E3 16 18 70 24 10 0 0 125
BBS2 20 9 61 26 7 0 0 119
TTC8 6 30 58 10 3 0 0 106
IFT140, LOC105371046 13 14 51 23 5 0 0 102
HGSNAT, LOC130000316 6 3 21 68 3 0 0 101
CNGA1, LOC101927157 23 16 48 4 6 0 1 90
TULP1 20 18 47 1 7 0 0 89
SEMA4A 3 0 56 20 14 0 0 87
LRAT 1 2 72 4 7 0 0 86
RP2 22 18 29 7 12 0 0 86
TOPORS 8 3 53 13 13 0 1 86
IMPDH1 6 7 49 14 9 0 0 82
IFT172, LOC126806174 6 1 30 40 2 0 0 76
CFAP418 8 2 52 17 10 0 0 74
AIPL1 2 3 49 5 15 0 0 71
PRPF6 2 1 44 8 15 0 0 70
CYGB, PRCD 5 2 47 2 6 0 0 61
RP1L1 12 10 10 7 23 0 0 61
RLBP1 6 4 41 4 3 0 0 57
SAG 6 2 37 4 8 0 0 57
KLHL7 6 5 29 10 9 0 0 56
POMGNT1, TSPAN1 12 8 23 2 8 0 1 52
OFD1 6 1 18 22 3 0 0 50
SPATA7 9 0 34 0 8 0 0 50
GUCA1B 1 0 30 6 12 0 0 47
LOC122152296, USH2A 13 16 19 4 1 0 0 47
ROM1 1 0 33 9 6 0 0 47
CLRN1 13 29 5 0 0 0 1 45
BEST1 7 2 24 4 8 0 0 44
CERKL, ITGA4 3 2 31 2 7 0 0 44
MAK 10 19 13 1 2 0 0 43
RGR 2 3 34 0 7 0 0 43
NRL 7 5 17 6 8 0 0 42
PRPF3 6 1 24 5 7 0 0 41
IFT43 1 1 24 12 3 0 0 40
IDH3B 3 0 33 1 2 0 0 39
LOC126860392, RP1 6 8 14 4 5 0 0 34
CC2D2A 13 3 13 3 0 0 0 32
CA4 1 0 15 9 7 0 0 31
UNC119 0 0 12 4 14 0 0 30
KIAA1549 5 1 3 9 11 0 0 29
ZNF513 1 1 25 2 0 0 0 29
PDE6G 2 0 15 3 8 0 0 28
GPHN, RDH12 7 6 7 1 3 0 0 24
GPHN, RDH12, ZFYVE26 4 2 15 2 1 0 0 24
IFT140, LOC126862260 2 1 13 6 2 0 0 24
CEP290 12 3 8 0 0 0 0 23
RIC3, TUB 2 1 15 0 6 0 0 23
BEST1, FTH1 1 0 9 6 3 0 0 19
FAM161A, LOC129933843 0 7 9 2 1 0 0 19
ABCA4, LOC126805793 8 5 4 0 2 0 0 18
GUCA1A, GUCA1B 0 0 0 0 17 0 0 17
REEP6 5 1 4 0 7 0 0 17
CLN3 8 6 3 0 0 0 0 16
DHX38 2 2 6 1 7 0 0 16
HK1 2 5 3 1 7 0 0 16
RP9 1 1 6 1 8 0 0 16
ARHGEF18 5 2 8 0 0 0 1 15
CFAP418, LOC130000784 2 0 11 2 1 0 0 15
FSCN2 1 0 6 5 3 0 0 15
CERKL, LOC129935215 1 4 10 2 0 0 0 14
AGBL5 3 3 5 1 1 0 0 12
LOC130068202, RP2 5 1 5 2 0 0 0 12
SNX17, ZNF513 0 0 11 0 1 0 0 12
CERKL, LOC129935214 3 4 5 1 1 0 0 11
IDH3A 9 2 2 0 0 0 0 11
BBS1, ZDHHC24 6 4 1 0 0 0 0 10
CACNA1F 4 2 3 1 0 0 0 10
RPGRIP1 6 4 0 0 0 0 0 10
SLC7A14 4 0 3 3 2 0 0 10
AHI1 4 4 1 0 0 0 0 9
ARL2BP 8 1 0 0 0 0 0 9
IMPDH1, LOC129999258 1 0 8 0 1 0 0 9
LOC129933377, ZNF513 0 0 8 1 0 0 0 9
LOC130055387, NRL 2 2 4 0 1 0 0 8
LOC130060555, UNC119 0 0 6 1 1 0 0 8
MYO7A 2 3 3 0 0 0 0 8
ALMS1 4 3 0 0 0 0 0 7
ARL3 3 0 4 0 1 0 0 7
CNGA1 0 0 6 0 1 0 0 7
FLVCR1 4 1 2 0 0 0 0 7
LOC130056226, SPATA7 0 0 6 0 1 0 0 7
POMGNT1 1 0 5 0 1 0 0 7
TTLL5 6 1 0 0 0 0 0 7
GUCY2D 2 3 1 0 0 0 0 6
RCBTB1 0 4 2 0 0 0 0 6
ADGRV1 0 2 3 0 0 0 0 5
CFAP410 2 2 1 0 0 0 0 5
COQ8B 0 4 0 0 0 1 0 5
LOC112806037, MERTK 3 0 2 0 0 0 0 5
LOC112841608, SNRNP200 0 0 3 0 2 0 0 5
NEK2 1 0 2 1 1 0 0 5
PRPF4 2 0 3 0 0 0 0 5
ABCA4, LOC126805794 3 1 1 0 0 0 0 4
ADAM9 4 0 0 0 0 0 0 4
BBS1 2 1 2 0 0 0 0 4
BBS4 2 1 1 0 0 0 0 4
CDH23 1 2 1 0 0 0 0 4
CEP78 4 0 0 0 0 0 0 4
CNGA3 1 3 0 0 0 0 0 4
CNGB3 1 0 2 0 0 0 1 4
GNAT1 2 0 2 0 0 0 0 4
GUCA1A, GUCA1ANB-GUCA1A 1 3 0 0 0 0 0 4
IDH3B, LOC129391150 0 0 3 1 0 0 0 4
IMPG1 2 1 1 0 0 0 0 4
KIZ 1 0 0 3 0 0 0 4
LCA5 4 0 0 0 0 0 0 4
LOC126863090, PRPF6 0 0 3 0 1 0 0 4
PANK2 3 0 1 0 0 0 0 4
PRPF31, TFPT 2 1 1 0 0 0 0 4
RAX2 4 0 0 0 0 0 0 4
SMIM27, TOPORS 0 0 2 1 1 0 0 4
VPS13B 3 0 0 0 1 0 0 4
ZNF408 2 1 2 0 0 0 0 4
BBS12 0 2 1 0 0 0 0 3
CABP4 1 2 0 0 0 0 0 3
CHM 2 1 0 0 0 0 0 3
CYP4V2 2 1 0 0 0 0 0 3
DHX38, LOC126862391 0 0 1 0 0 0 2 3
HGSNAT, POMK 1 0 2 0 0 0 0 3
IMPDH1, LOC107986845 0 0 3 0 0 0 0 3
KIZ, LOC130065509 2 0 1 0 0 0 0 3
LOC126806272, SNRNP200 0 0 1 1 1 0 0 3
LOC129998225, RP9 0 1 1 1 0 0 0 3
PHYH 2 2 0 0 0 0 0 3
PITPNM3 0 0 2 1 0 0 0 3
ACBD5 0 0 2 0 0 0 0 2
ADAMTS18 0 0 1 0 1 0 0 2
ARL6, EPHA6 1 0 1 0 0 0 0 2
ATP5ME, PDE6B 1 1 0 0 0 0 0 2
BBS10 1 1 0 0 0 0 0 2
BBS7 1 1 0 0 0 0 0 2
CACNA2D4 2 0 0 0 0 0 0 2
CDH3 0 2 0 0 0 0 0 2
CDHR1, LOC130004216 0 0 1 1 0 0 0 2
CLCC1 1 0 0 0 0 0 1 2
CNNM4 0 0 2 0 0 0 0 2
EML3, ROM1 0 0 2 0 0 0 0 2
EYS, LOC132089416 2 0 0 0 0 0 0 2
GPR179 0 0 2 0 0 0 0 2
HKDC1 0 1 0 0 1 0 0 2
HKDC1, LOC126860950 0 1 1 0 0 0 0 2
IQCB1 0 2 0 0 0 0 0 2
KIZ, LOC130065507 2 0 0 0 0 0 0 2
LOC126863089, PRPF6 0 0 1 0 1 0 0 2
LOC129933376, ZNF513 0 0 2 0 0 0 0 2
LOC130068098, RPGR 1 1 0 0 0 0 0 2
MFSD8 0 1 1 0 0 0 0 2
NDUFA3, PRPF31, TFPT 2 0 0 0 0 0 0 2
NMNAT1 2 0 0 0 0 0 0 2
NPHP4 0 2 0 0 0 0 0 2
NRL, PCK2 0 0 2 0 0 0 0 2
OPA1 0 0 2 0 0 0 0 2
PPT1 2 0 0 0 0 0 0 2
RAB28 1 1 0 0 0 0 0 2
RIMS1 0 0 2 0 0 0 0 2
SAMD11 0 0 2 0 0 0 0 2
SLC24A1 2 0 0 0 0 0 0 2
TRPM1 0 0 2 0 0 0 0 2
TUB 0 0 2 0 0 0 0 2
USH1C 2 0 0 0 0 0 0 2
VSX2 1 0 1 0 0 0 0 2
VWA8 1 0 0 0 1 0 0 2
WDR19 0 0 2 0 0 0 0 2
ADAM9, LOC130000261 1 0 0 0 0 0 0 1
ADGRA3 0 1 0 0 0 0 0 1
ADIPOR1 0 0 1 0 0 0 0 1
AHR 1 0 0 0 0 0 0 1
ARID1A, AUNIP, CATSPER4, CD52, CEP85, CNKSR1, CRYBG2, DHDDS, EXTL1, FAM110D, GPATCH3, GPN2, HMGN2, KDF1, LDLRAP1, LIN28A, MAN1C1, MTFR1L, NR0B2, NUDC, PAFAH2, PAQR7, PDIK1L, PIGV, RPS6KA1, SELENON, SFN, SH3BGRL3, SLC30A2, STMN1, TRIM63, UBXN11, ZDHHC18, ZNF593, ZNF683 0 0 1 0 0 0 0 1
ASPM, CFHR2, CFHR5, CRB1, DENND1B, F13B, ZBTB41 1 0 0 0 0 0 0 1
ASPM, CRB1, ZBTB41 1 0 0 0 0 0 0 1
ATP5ME, MYL5, PDE6B, SLC49A3 1 0 0 0 0 0 0 1
B3GAT3, ROM1 0 0 0 1 0 0 0 1
BBS2, OGFOD1 0 0 1 0 0 0 0 1
BBS9 0 1 0 0 0 0 0 1
BICRA, C5AR1, C5AR2, CCDC9, CRX, DHX34, EHD2, INAFM1, KPTN, LINC01595, LOC112552166, LOC116286191, LOC121627882, LOC121627883, LOC121852990, LOC125371537, LOC125371538, LOC125371539, LOC125371540, LOC130064806, LOC130064807, LOC130064808, LOC130064809, LOC130064810, LOC130064811, LOC130064812, LOC130064813, LOC130064814, LOC130064815, LOC130064816, LOC130064817, LOC130064818, LOC130064819, LOC130064820, LOC130064821, LOC130064822, LOC130064823, LOC130064824, LOC130064825, LOC130064826, LOC130064827, LOC130064828, LOC130064829, LOC130064830, LOC130064831, MEIS3, NAPA, NOP53, SELENOW, SLC8A2, SNORD23, SULT2A1, TPRX1, TPRX2, ZNF541 0 0 1 0 0 0 0 1
BLOC1S1-RDH5, RDH5 0 1 0 0 0 0 0 1
CERKL, ITGA4, ITPRID2, LOC108281145, LOC112806063, LOC122861261, LOC122861262, LOC126806440, LOC129388961, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, NEUROD1 0 1 0 0 0 0 0 1
CFAP410, LOC130066823 1 1 0 0 0 0 0 1
CFAP47, CXorf22, CXorf30, CYBB, DYNLT3, FAM47C, H2AP, LANCL3, MAGEB16, OTC, PRRG1, RPGR, SRPX, SYTL5, TSPAN7, XK 1 0 0 0 0 0 0 1
CNGB1, LOC130059126 0 0 1 0 0 0 0 1
COL18A1 0 1 0 0 0 0 0 1
COL18A1, SLC19A1 0 1 0 0 0 0 0 1
COL2A1 0 0 1 0 0 0 0 1
CRX, LINC01595, SULT2A1, TPRX1, TPRX2 0 0 1 0 0 0 0 1
CRX, SULT2A1 0 0 1 0 0 0 0 1
CRX, SULT2A1, TPRX1 0 0 1 0 0 0 0 1
CRX, TPRX2 0 0 0 1 1 0 0 1
CRYGS 1 0 0 0 0 0 0 1
DEPDC1, RPE65 1 0 0 0 0 0 0 1
DRAM2 0 1 0 0 0 0 0 1
EYS, LOC113175011 0 1 0 0 0 0 0 1
EYS, LOC129996683 0 1 0 0 0 0 0 1
EYS, LOC132089415 1 0 0 0 0 0 0 1
EYS, LOC132089415, LOC132089416 1 0 0 0 0 0 0 1
EYS, LOC132089417 0 1 0 0 0 0 0 1
EYS, LOC132089417, LOC132089418, LOC132089419, LOC132089420, LOC132089421, LOC132089422, LOC132089423, LOC132089424, LOC132089425, LOC132090758, LOC132090759, LOC132205963 1 0 0 0 0 0 0 1
EYS, LOC441155 1 0 0 0 0 0 0 1
FNDC4, GCKR, IFT172 0 0 1 0 0 0 0 1
FNTA, HGSNAT, POMK, POTEA 0 0 1 0 0 0 0 1
GLDC 1 0 0 0 0 0 0 1
GUCA1A, GUCA1ANB-GUCA1A, GUCA1B 1 0 0 0 0 0 0 1
HGSNAT, LOC121740716, LOC130000316, LOC130000317, LOC130000318, LOC130000319, LOC130000320, LOC130000321, POMK 0 0 1 0 0 0 0 1
HGSNAT, POTEA 0 0 1 0 0 0 0 1
HKDC1, LOC101928994 1 0 0 0 0 0 0 1
IFT88 0 0 1 0 0 0 0 1
KCTD3, USH2A 0 0 1 0 0 0 0 1
KIF11 1 0 0 0 0 0 0 1
LARGE1 1 0 0 0 0 0 0 1
LOC111828517, RAB28 0 0 1 0 0 0 0 1
LOC112806037, LOC122817727, LOC129934574, LOC129934575, MERTK, TMEM87B 1 0 0 0 0 0 0 1
LOC112806037, LOC122817727, MERTK 1 0 0 0 0 0 0 1
LOC112806037, LOC129934573, MERTK 0 1 0 0 0 0 0 1
LOC125384566, LOC130065345, LOC130065346, LOC130065347, MIR103A2, MIR103B2, PANK2 1 0 0 0 0 0 0 1
LOC126863212, OFD1 0 0 1 0 0 0 0 1
LOC130057872, RLBP1 0 1 0 0 0 0 0 1
LOC130066413, PRPF6 0 0 0 0 1 0 0 1
MERTK, MKS1 1 0 0 0 0 0 0 1
MERTK, TMEM87B 0 0 0 0 0 0 1 1
NYX 0 0 1 0 0 0 0 1
P3H2 1 0 0 0 0 0 0 1
PCDH15 0 1 0 0 0 0 0 1
POC1B 1 0 0 0 0 0 0 1
POC5 0 0 1 0 0 0 0 1
PRPF8, RILP 0 1 1 0 0 0 0 1
SCAPER 1 0 0 0 0 0 0 1
SSBP1 1 0 0 0 0 0 0 1
TEAD3, TULP1 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 150
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
Labcorp Genetics (formerly Invitae), Labcorp 695 190 1887 2612 136 0 0 5520
Illumina Laboratory Services, Illumina 8 8 2965 426 672 0 0 4020
Genome-Nilou Lab 138 240 609 203 363 0 0 1553
Fulgent Genetics, Fulgent Genetics 178 103 754 317 44 0 0 1396
Baylor Genetics 474 777 37 0 0 0 0 1288
Natera, Inc. 66 27 448 97 67 0 0 705
Counsyl 86 192 262 60 4 0 0 604
OMIM 369 0 6 0 0 0 0 375
Ocular Genomics Institute, Massachusetts Eye and Ear 94 140 108 1 1 0 0 344
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 74 155 72 0 0 0 0 300
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 96 116 80 1 1 0 0 292
Molecular Genetics Laboratory, Institute for Ophthalmic Research 265 5 6 0 2 0 0 274
Sharon lab, Hadassah-Hebrew University Medical Center 170 83 0 0 0 0 0 253
NIHR Bioresource Rare Diseases, University of Cambridge 38 152 22 2 0 0 0 214
DBGen Ocular Genomics 68 49 71 0 2 0 0 190
Mendelics 99 23 17 7 14 0 0 160
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 4 23 32 73 0 0 135
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 69 61 0 0 0 0 0 130
Blueprint Genetics 51 46 11 0 0 0 0 108
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 54 38 9 0 0 1 0 102
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 63 6 32 0 0 0 0 101
3billion 43 34 23 0 0 0 0 100
Department of Ophthalmology and Visual Sciences Kyoto University 35 58 0 0 0 0 0 93
Revvity Omics, Revvity 27 27 33 0 0 0 0 87
Centre for Mendelian Genomics, University Medical Centre Ljubljana 15 14 54 0 0 0 0 83
Juno Genomics, Hangzhou Juno Genomics, Inc 40 23 19 0 0 0 0 82
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 23 41 7 0 0 0 0 71
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 48 23 0 0 0 0 0 71
Institute of Human Genetics, University of Leipzig Medical Center 24 23 14 0 0 0 0 61
Genomics England Pilot Project, Genomics England 36 25 0 0 0 0 0 61
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 22 17 14 0 0 0 0 53
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 21 5 20 1 0 0 0 47
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 18 18 5 0 0 0 0 41
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 4 24 10 0 0 41
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 38 0 0 0 0 39
Genetics and Molecular Pathology, SA Pathology 14 13 12 0 0 0 0 39
INSERM U1051, Institut des Neurosciences de Montpellier 14 14 9 0 0 0 0 37
MGZ Medical Genetics Center 8 15 12 0 0 0 0 35
New York Genome Center 2 2 31 0 0 0 0 35
Institute of Medical Molecular Genetics, University of Zurich 7 22 0 0 0 0 0 29
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 7 12 7 0 0 0 0 26
Neuberg Centre For Genomic Medicine, NCGM 4 7 15 0 0 0 0 26
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 21 21
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 10 11 0 0 0 0 21
MVZ Medizinische Genetik Mainz 2 13 4 0 0 0 0 19
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 9 7 0 0 0 0 0 16
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 7 7 0 0 0 0 0 14
Siriraj Ophthalmic Genetics Research, Faculty of Medicine Siriraj Hospital, Mahidol University 4 6 3 0 0 0 0 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 11 0 0 11
Pangenia Genomics, Pangenia Inc. 5 2 4 0 0 0 0 11
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 6 0 0 0 0 10
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 2 5 1 1 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 0 9 9
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 5 4 0 0 0 0 9
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 8 0 0 0 0 0 0 8
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 4 3 1 0 0 0 0 8
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 2 6 0 0 0 0 8
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 2 3 0 0 0 0 8
Inherited Eye Disorders lab, UCL Institute of Ophthalmology 3 5 0 0 0 0 0 8
Institute of Human Genetics, University of Goettingen 0 1 6 0 0 0 0 7
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 2 1 4 0 0 0 0 7
Reproductive Health Research and Development, BGI Genomics 6 0 1 0 0 0 0 7
Institute of Human Genetics, University Hospital Muenster 4 0 2 0 1 0 0 7
Moosajee Lab, UCL Institute of Ophthalmology 2 4 1 0 0 0 0 7
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 6 0 0 0 0 7
Molecular Genetics, Royal Melbourne Hospital 2 3 2 0 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 4 0 0 0 0 0 6
UCLA Clinical Genomics Center, UCLA 2 4 0 0 0 0 0 6
Center for Medical Genetics Ghent, University of Ghent 0 4 2 0 0 0 0 6
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 2 3 0 0 0 0 6
Pars Genome Lab 1 0 2 3 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 1 2 0 0 0 0 5
SIB Swiss Institute of Bioinformatics 0 3 2 0 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 2 0 0 0 0 0 5
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 2 1 0 0 0 4
Rui Chen Lab, Baylor College of Medicine 2 0 0 2 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 0 0 4
Department of Medical Genetics, College of Basic Medicine, Army Medical University 2 0 2 0 0 0 0 4
Leeds Institute of Medical Research, University of Leeds 4 0 0 0 0 0 0 4
Laboratory of Genetics in Ophthalmology, Institut Imagine 4 0 0 0 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 1 0 0 0 0 0 4
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 2 2 0 0 0 0 0 4
Solve-RD Consortium 0 4 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 0 3
GeneReviews 0 0 0 0 0 0 3 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 2 0 0 0 0 0 3
Genetics Laboratory, Department of Biology, Semnan University 3 0 0 0 0 0 0 3
Wuhan Primbio Medical Laboratory 1 2 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 0 3
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 2 0 0 0 0 0 3
Department of Genetics, Suzhou Beikang Medical Laboratory 0 3 0 0 0 0 0 3
Sema4, Sema4 0 2 0 0 0 0 0 2
Eye Genetics Research Group, Children's Medical Research Institute 1 1 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 0 2
Servicio Extremeño de Salud, Hospital de Mérida 1 1 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 1 0 0 0 0 0 2
Breda Genetics srl 0 1 0 1 0 0 0 2
Myriad Genetics, Inc. 2 0 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 0 1 1 0 0 0 0 2
Henan Ocular Pharmacology and Therapeutics International Laboratory, Henan Provincial People’s Hospital 2 0 0 0 0 0 0 2
School of Computer Science, University of Waterloo 2 0 0 0 0 0 0 2
DASA 1 1 0 0 0 0 0 2
The Key Laboratory for Human Disease Gene Study of Sichuan Province, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital 2 0 0 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 1
Northern Molecular Genetics Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Molecular Genetics Unit, Terrassa Hospital 0 0 0 0 0 0 1 1
Personalis, Inc. 1 0 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 1 0 0 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 1 0 0 0 0 0 0 1
Department of Medical Genetics, Gazi University 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 0 1
Rappaport Faculty of Medicine, Technion-Israel Institute of Technology 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 1
Leiden Open Variation Database 0 1 0 0 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 1
The Cell Therapy Center, The University of Jordan 1 0 0 0 0 0 0 1
Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town 1 0 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 0 1
Molecular Medicine, University of Pavia 0 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 0 1
Heon Lab, The Hospital for Sick Children 0 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 1 0 0 0 0 0 1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 1 0 0 0 0 0 0 1
Maternalfetal Medicine, Genetics and Reproduction, University Hospital Virgen del Rocio/CIBERER 1 0 0 0 0 0 0 1
Human Genetics, Hazara University Mansehra 0 1 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 0 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 1
Medical Research Center, Medical College, Shaoxing University 0 0 0 0 0 0 1 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 0 1
Department Of Ophthalmology, Xi'an People's Hospital 0 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 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.