ClinVar Miner

Variants studied for anorectal malformation

Included ClinVar conditions (76):
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 risk factor not provided total
1008 413 3670 1207 950 2 3 7027

Gene and significance breakdown #

Total genes and gene combinations: 128
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
RECQL4 133 32 1578 555 87 0 0 2374
KMT2D 318 180 255 153 84 0 3 923
FRAS1 50 7 288 47 122 0 0 508
DYNC2H1 91 88 213 19 55 0 0 390
FREM2 12 2 252 32 81 0 0 377
GLI3 58 3 102 82 110 0 0 339
MED12 7 5 142 98 38 0 0 289
WDR35 13 5 138 41 40 0 0 227
TBX1 14 1 118 40 17 0 0 188
VANGL1 0 0 91 15 58 0 0 164
TBX3 8 1 66 14 50 0 0 136
GRIP1 3 1 74 20 10 0 0 106
KDM6A 37 25 25 6 10 0 0 101
PITX2 26 5 43 1 25 0 0 98
SALL1 35 4 27 12 23 0 0 93
FOXC1 36 8 22 6 8 0 0 79
DYNC2I1 10 7 24 17 19 0 0 72
PHOX2B 3 0 30 2 19 2 0 56
SALL4 20 0 8 6 21 0 0 55
DYNC2I2 14 4 16 10 11 0 0 53
KIFBP 1 2 39 3 8 0 0 51
FANCB 0 0 21 5 21 0 0 47
PQBP1 10 4 12 1 7 0 0 32
MID1 17 8 5 0 1 0 0 30
ZIC3 2 1 18 2 7 0 0 29
PTEN 4 1 10 0 0 0 0 15
CASQ2, VANGL1 0 0 0 0 13 0 0 13
MNX1 11 0 0 0 0 0 0 11
UBR1 6 1 3 1 0 0 0 11
SMO 6 2 0 0 0 0 0 8
FREM1 3 0 4 0 0 0 0 7
LOC110011216, PHOX2B 0 0 3 2 2 0 0 7
SPECC1L, SPECC1L-ADORA2A 2 2 3 0 0 0 0 7
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 5 1 0 0 0 0 0 6
HCCS 4 1 1 0 0 0 0 6
CCNQ 5 0 0 0 0 0 0 5
COX7B 3 0 2 0 0 0 0 5
C22orf39, CDC45, CLDN5, CLTCL1, DGCR2, ESS2, GP1BB, GSC2, HIRA, MRPL40, PRODH, SEPTIN5, SLC25A1, TBX1, TSSK2, UFD1 2 0 2 0 0 0 0 4
KLLN, PTEN 0 0 4 0 0 0 0 4
NDUFB11 2 0 2 0 0 0 0 4
DACT1 1 0 1 1 0 0 0 3
HSPA9 3 0 0 0 0 0 0 3
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP18, USP41, ZDHHC8, ZNF74 2 0 0 0 0 0 0 2
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 2 0 0 0 0 0 0 2
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 2 0 0 0 0 0 0 2
DYNC2I2, SPTAN1 1 0 1 0 0 0 0 2
FANCL 2 0 0 0 0 0 0 2
KMT2A 2 0 0 0 0 0 0 2
LOC110120888, TBX1 2 0 0 0 0 0 0 2
NEK1 2 0 0 0 0 0 0 2
PTCH1 0 1 1 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 1 0 0 0 0 0 0 1
ABCC4, ABHD13, ANKRD10, ARGLU1, BIVM, BIVM-ERCC5, CARS2, CCDC168, CLDN10, CLYBL, COL4A1, COL4A2, DAOA, DCT, DNAJC3, DOCK9, DZIP1, EFNB2, ERCC5, FARP1, FGF14, GGACT, GPC6, GPR18, GPR180, GPR183, HS6ST3, ING1, IPO5, IRS2, ITGBL1, LIG4, LINC00567, MBNL2, METTL21C, MYO16, NALCN, NALF1, NAXD, OXGR1, PCCA, POGLUT2, RAB20, RAP2A, RNF113B, SLC10A2, SLC15A1, SOX21, STK24, TEX30, TGDS, TM9SF2, TMTC4, TNFSF13B, TPP2, UBAC2, UGGT2, ZIC2, ZIC5 1 0 0 0 0 0 0 1
ABCC5, ABCF3, ACTL6A, ALG3, AP2M1, ATP11B, B3GNT5, C3orf70, CAMK2N2, CCDC39, CHRD, CLCN2, DCUN1D1, DNAJC19, DVL3, ECE2, EEF1AKMT4, EEF1AKMT4-ECE2, EHHADH, EIF2B5, EIF2B5-DT, EIF4G1, EPHB3, FAM131A, FXR1, GNB4, HTR3C, HTR3D, HTR3E, IGF2BP2, KCNMB2, KCNMB3, KLHL24, KLHL6, LAMP3, LINC00888, LINC01014, LINC01206, LINC01839, LINC01840, LINC01994, LINC01995, LINC02015, LINC02031, LINC02053, LINC02054, LINC02069, LIPH, LOC101928739, LOC101928882, LOC102724604, LOC107986163, LOC108281177, LOC110120606, LOC110120632, LOC110120734, LOC110121064, LOC112935913, LOC114004376, LOC115995533, LOC115995534, LOC115995535, LOC121048724, LOC121048725, MAGEF1, MAP3K13, MAP6D1, MCCC1, MCF2L2, MFN1, MIR1224, MIR4448, MIR5588, MRPL47, NDUFB5, PARL, PEX5L, PIK3CA, POLR2H, PSMD2, SENP2, SNORA63D, SNORA63E, SNORD66, SOX2, SOX2-OT, SOX2-SRR2, THPO, TMEM41A, TTC14, USP13, VPS8, VWA5B2, YEATS2, ZMAT3, ZNF639 0 1 0 0 0 0 0 1
ABR, BHLHA9, TRARG1, YWHAE 0 0 0 1 0 0 0 1
ADA2, ADORA2A, AIFM3, ARVCF, ATP6V1E1, BCL2L13, BCR, BID, C22orf15, C22orf39, CABIN1, CCDC116, CCT8L2, CDC45, CECR2, CECR3, CHCHD10, CLDN5, CLTCL1, COMT, CRKL, CRYBB2, CRYBB3, DDT, DDTL, DERL3, DGCR2, DGCR6, DGCR6L, DGCR8, DRICH1, ESS2, FAM230A, GAB4, GGT1, GGT2, GGT5, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GRK3, GSC2, GSTT1, GSTT2, GSTT2B, GUCD1, HDHD5, HIC2, HIRA, IGLC1, IGLL1, IGLL5, IL17RA, KIAA1671, KLHL22, LRRC75B, LZTR1, MAPK1, MED15, MICAL3, MIF, MIR130B, MMP11, MRPL40, MYO18B, P2RX6, PEX26, PI4KA, PIWIL3, PPIL2, PPM1F, PRAME, PRODH, RAB36, RANBP1, RGL4, RIMBP3, RIMBP3B, RIMBP3C, RSPH14, RTL10, RTN4R, SCARF2, SDF2L1, SEPTIN5, SERPIND1, SGSM1, SLC25A1, SLC25A18, SLC2A11, SLC7A4, SMARCB1, SNAP29, SNRPD3, SPECC1L, SUSD2, TANGO2, TBX1, THAP7, TMEM121B, TMEM191B, TMEM191C, TMEM211, TOP3B, TRMT2A, TSSK2, TUBA8, TXNRD2, UBE2L3, UFD1, UPB1, USP18, USP41, VPREB1, VPREB3, XKR3, YDJC, YPEL1, ZDHHC8, ZNF280A, ZNF280B, ZNF70, ZNF74 1 0 0 0 0 0 0 1
ADA2, ATP6V1E1, BCL2L13, BID, CECR2, CECR3, GAB4, HDHD5, IL17RA, MICAL3, PEX26, SLC25A18, TMEM121B, TUBA8, USP18 1 0 0 0 0 0 0 1
ADA2, CECR3, GAB4, HDHD5, IL17RA, TMEM121B, XKR3 1 0 0 0 0 0 0 1
ADAMTS14 0 0 1 0 0 0 0 1
ADARB1, C21orf58, COL18A1, COL6A1, COL6A2, DIP2A, FTCD, LINC00163, LINC00315, LINC00334, LSS, MCM3AP, PCBP3, PCNT, POFUT2, PRMT2, S100B, SLC19A1, SLX9, SPATC1L, YBEY 1 0 0 0 0 0 0 1
ADCY6, ARF3, CACNB3, CCDC65, CCNT1, DDN, DDX23, FKBP11, KANSL2, KMT2D, PRKAG1, RHEBL1, RND1, WNT1, WNT10B 1 0 0 0 0 0 0 1
AGMO 0 0 0 1 0 0 0 1
AIFM3, ARVCF, BCR, C22orf39, CCDC116, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GSC2, HIC2, HIRA, IGLC1, IGLL5, KLHL22, LZTR1, MAPK1, MED15, MICAL3, MIR130B, MRPL40, P2RX6, PEX26, PI4KA, PPIL2, PPM1F, PRAME, PRODH, RAB36, RANBP1, RIMBP3, RIMBP3B, RIMBP3C, RSPH14, RTL10, RTN4R, SCARF2, SDF2L1, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TMEM191C, TOP3B, TRMT2A, TSSK2, TUBA8, TXNRD2, UBE2L3, UFD1, USP18, USP41, VPREB1, YDJC, YPEL1, ZDHHC8, ZNF280A, ZNF280B, ZNF74 1 0 0 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SNAP29, TANGO2, TBX1, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 0 1
AIPL1 0 0 1 0 0 0 0 1
ALG1 0 0 0 0 1 0 0 1
ALPK3, NMB, PDE8A, SEC11A, SLC28A1, WDR73, ZNF592, ZSCAN2 0 0 0 1 0 0 0 1
ANKS1B, UHRF1BP1L 0 0 0 1 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6L, DGCR8, ESS2, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 1 0 0 0 0 0 0 1
ARVCF, COMT, GNB1L, GP1BB, LOC110120888, LOC112694764, LOC112694766, MIR4761, RTL10, SEPT5-GP1BB, SEPTIN5, TBX1, TXNRD2 1 0 0 0 0 0 0 1
ASPA, SPATA22 0 0 1 0 0 0 0 1
ATP5MF-PTCD1, PTCD1 0 0 0 0 1 0 0 1
AXIN1 1 0 0 0 0 0 0 1
B3GNTL1, METRNL, TBCD 0 0 0 1 0 0 0 1
BBS10 1 0 0 0 0 0 0 1
BCLAF1 0 0 1 0 0 0 0 1
BCR, GGTLC2, GNAZ, IGLC1, IGLL5, RAB36, RSPH14 1 0 0 0 0 0 0 1
BORCS6 0 0 1 0 0 0 0 1
C22orf39, CDC45, CLDN5, CLTCL1, GP1BB, HIRA, MRPL40, SEPTIN5, SLC25A1, TBX1, UFD1 1 0 0 0 0 0 0 1
CCDC74A, MZT2A, TUBA3D 0 0 0 1 0 0 0 1
CDH13 0 1 0 0 0 0 0 1
CDX2 0 1 0 0 0 0 0 1
CHST5 0 0 0 1 0 0 0 1
CHST7, DIPK2B, DUSP21, EFHC2, FUNDC1, KDM6A, KRBOX4, MAOA, MAOB, MIR221, MIR222, NDP, RP2, SLC9A7, ZNF674 0 1 0 0 0 0 0 1
CNTNAP2 0 0 0 1 0 0 0 1
CTNNB1 0 1 0 0 0 0 0 1
DIPK2B, DUSP21, EFHC2, FUNDC1, KDM6A, MAOA, MAOB, NDP 0 1 0 0 0 0 0 1
DNAJC15, EPSTI1 0 0 0 1 0 0 0 1
DNMT3B 0 0 1 0 0 0 0 1
DYNLT2B 1 0 0 0 0 0 0 1
ENPEP, PITX2 1 0 0 0 0 0 0 1
FAM170A 0 1 0 0 0 0 0 1
FAM98C 0 1 0 0 0 0 0 1
FBP1, FBP2 0 0 0 1 0 0 0 1
FOXC1, FOXF2, FOXQ1, GMDS 1 0 0 0 0 0 0 1
FOXF1 0 1 0 0 0 0 0 1
FXYD4, HNRNPF 0 1 0 0 0 0 0 1
GABRG3 0 0 1 0 0 0 0 1
GJB1, MED12, NLGN3 0 0 1 0 0 0 0 1
GLI3, LOC110121152 0 0 1 0 0 0 0 1
GNB5 0 0 1 0 0 0 0 1
GPC5 0 0 0 1 0 0 0 1
HCFC1 0 0 1 0 0 0 0 1
HOXD13 0 0 1 0 0 0 0 1
INTU 1 0 0 0 0 0 0 1
KMT2B 0 0 1 0 0 0 0 1
LSM10 0 0 1 0 0 0 0 1
MATN3, WDR35 0 0 0 0 1 0 0 1
MED23 0 0 1 0 0 0 0 1
MPC1 0 0 1 0 0 0 0 1
MYO18B 0 0 1 0 0 0 0 1
NALCN 0 0 0 1 0 0 0 1
NOTCH2 0 0 1 0 0 0 0 1
NREP 0 0 0 1 0 0 0 1
ODAD1 0 0 1 0 0 0 0 1
PARM1 0 0 0 1 0 0 0 1
PRDM5 0 0 1 0 0 0 0 1
SLC9A4 0 0 1 0 0 0 0 1
SMYD3 0 0 0 1 0 0 0 1
SORCS1 0 0 0 1 0 0 0 1
TBXAS1 0 0 1 0 0 0 0 1
TLCD3A 0 0 1 0 0 0 0 1
TMEM256, TMEM256-PLSCR3 0 1 0 0 0 0 0 1
WDR81 0 0 1 0 0 0 0 1
ZBTB24 0 0 1 0 0 0 0 1
ZXDA 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 115
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 383 75 2098 943 363 0 0 3862
Illumina Clinical Services Laboratory,Illumina 0 2 1248 197 591 0 0 2036
Center for Human Genetics, Inc,Center for Human Genetics, Inc 23 99 42 23 1 0 0 188
OMIM 180 0 2 0 0 2 0 184
Autoinflammatory diseases unit,CHU de Montpellier 106 23 0 0 0 0 0 129
Baylor Genetics 27 6 64 0 0 0 0 97
Genetic Services Laboratory, University of Chicago 54 8 31 0 0 0 0 93
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 21 18 52 0 0 92
Fulgent Genetics,Fulgent Genetics 10 1 78 0 0 0 0 89
University of Washington Center for Mendelian Genomics, University of Washington 0 82 0 0 0 0 0 82
Dan Cohn Lab,University Of California Los Angeles 71 2 2 0 0 0 0 75
Mendelics 9 2 13 9 17 0 0 50
GeneReviews 46 0 0 0 0 0 0 46
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 34 3 6 0 0 0 0 43
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 39 0 0 42
Centre for Mendelian Genomics,University Medical Centre Ljubljana 7 6 17 2 1 0 0 33
Molecular Pathology, SA Pathology 20 1 5 0 0 0 0 26
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 2 5 0 15 0 0 0 22
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 6 6 7 0 0 0 0 19
Institute of Human Genetics, University of Leipzig Medical Center 2 2 10 4 1 0 0 19
Shaikh Laboratory, University of Colorado 0 16 0 0 0 0 0 16
Department of Molecular Biology and Genetics,Istanbul Technical University 1 0 15 0 0 0 0 16
Institute of Human Genetics, Klinikum rechts der Isar 9 6 0 0 0 0 0 15
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 11 0 1 0 0 14
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 4 6 0 0 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 14 0 0 0 0 14
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 12 0 0 13
Genomic Medicine Lab, University of California San Francisco 8 1 2 0 0 0 0 11
Johns Hopkins Genomics, Johns Hopkins University 4 2 4 0 1 0 0 11
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 5 5 0 0 0 0 0 10
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 4 5 0 0 0 0 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 3 2 0 0 0 0 9
Human Genetics - Radboudumc,Radboudumc 5 1 3 0 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 7 0 0 0 0 0 9
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 2 2 0 0 0 0 9
Clinical Genetics laboratory, University of Goettingen 3 3 2 0 0 0 0 8
New York Genome Center 0 1 7 0 0 0 0 8
Center of Genomic medicine, Geneva,University Hospital of Geneva 5 2 0 0 0 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 1 0 0 0 0 0 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 6 0 0 7
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 7 0 0 0 0 0 0 7
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 5 1 0 0 0 0 0 6
Clinical Genetics, Erasmus University Medical Center 0 0 6 0 0 0 0 6
Daryl Scott Lab,Baylor College of Medicine 4 2 0 0 0 0 0 6
Broad Institute Rare Disease Group, Broad Institute 0 0 4 0 2 0 0 6
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 2 1 0 0 0 0 5
Service de Génétique Moléculaire,Hôpital Robert Debré 0 3 2 0 0 0 0 5
International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 5 0 0 0 0 0 0 5
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 5 0 0 0 0 0 5
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 1 0 1 0 0 0 4
Paul Sabatier University EA-4555, Paul Sabatier University 0 1 0 3 0 0 0 4
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 2 0 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 3 0 0 0 0 0 4
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 3 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 1 1 0 0 0 0 4
Breda Genetics srl 2 1 1 0 0 0 0 4
Clinical Genetics Research Group,Karolinska Institutet 1 0 3 0 0 0 0 4
Institute of Human Genetics,Cologne University 3 0 0 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 1 2 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 2 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 2 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 1 2 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 0 3
Clinical Genomics Program, Stanford Medicine 2 1 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 0 0 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 1 0 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 1 1 0 0 0 0 0 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 2 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 0 0 0 2
Leiden Open Variation Database 2 0 0 0 0 0 0 2
SBielas Lab, Department of Human Genetics,University of Michigan 1 0 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 0 0 2 0 0 0 0 2
DeNA Laboratory, DeNA Laboratory 0 1 1 0 0 0 0 2
Shieh Lab,University of California, San Francisco 2 0 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory,London Health Sciences Centre 0 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 1 0 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 0 0 1
Laboratory of Human Genetics,Universidade de São Paulo 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 1
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 1 0 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 0 0 1
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute,UT Southwestern Medical Center at Dallas 0 1 0 0 0 0 0 1
Biocant - Biotechnology Innovation Center 1 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 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 1
Hunan Clinical Research Center of Ophthalmic Disease,The Second Xiangya Hospital 1 0 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 0 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 0 1
Coyote Medical Laboratory (Beijing),Coyote 0 1 0 0 0 0 0 1
Codex Genetics Limited 1 0 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 0 1
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 0 1
Bjornsson Lab,Johns Hopkins University School of Medicine 1 0 0 0 0 0 0 1
Klinisk genetik och genomik Research,Gothenburg University 1 0 0 0 0 0 0 1
Unidad de Genetica,Hospital Roberto del Rio 1 0 0 0 0 0 0 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 0 0 1
Department of Neonatology,Xingtai People's Hospital 1 0 0 0 0 0 0 1
Medical Genetics Lab, Xi'an Fourth Hospital 0 1 0 0 0 0 0 1
Medical Genetics,Haseki Training and Research Hospital 0 1 0 0 0 0 0 1
School of Computer Science,University of Waterloo 1 0 0 0 0 0 0 1

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