ClinVar Miner

Variants studied for congenital heart disease

Included ClinVar conditions (232):
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 association risk factor not provided total
955 429 5295 2252 919 2 5 931 9757

Gene and significance breakdown #

Total genes and gene combinations: 288
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
KCNH2 217 88 616 264 35 0 1 357 1348
ANK2 4 6 718 290 90 0 0 12 1027
CACNA1C 14 5 487 328 204 0 0 2 1021
KCNQ1 210 93 308 134 39 0 0 304 833
AKAP9 1 5 484 177 69 0 0 0 675
PRDM16 6 0 260 134 44 0 0 0 442
SCN5A 28 24 199 51 31 0 0 161 415
KCNJ2 37 10 151 42 45 0 0 42 297
TNNT2 27 11 172 62 10 0 0 0 263
ACTC1, GJD2-DT 10 4 187 55 11 0 0 0 258
GATA4 40 4 123 46 32 0 0 0 227
KCNE1 11 8 108 49 31 0 1 25 180
MYBPC3 20 14 88 26 43 0 0 0 180
MYH7 29 22 85 39 9 0 0 1 179
KCNJ5 3 1 110 44 25 0 0 0 177
SNTA1 2 2 122 49 21 0 0 0 169
NKX2-5 44 4 84 30 13 0 0 0 166
GATA6 9 1 88 42 15 0 0 0 149
MED13L 15 4 47 44 20 0 0 1 129
SCN4B 3 0 77 38 4 0 0 0 120
DTNA 2 1 65 35 16 0 0 0 112
CAV3 7 5 61 31 9 0 0 0 104
GJA1 2 2 54 5 6 0 0 0 68
LDB3 9 2 45 10 2 0 0 0 66
KCNE2 3 1 42 19 7 0 1 10 59
FOXF1 26 7 9 5 7 0 0 0 53
TPM1 9 6 34 3 1 0 0 2 52
TTN 1 10 26 3 9 0 0 0 49
CALM2 9 10 15 9 2 0 0 0 38
CAV3, SSUH2 7 1 23 7 2 0 0 0 38
LOC110121269, SCN5A 2 1 19 7 4 0 1 11 36
NKX2-6 2 1 20 10 3 0 0 0 35
MYH6 2 0 29 2 1 0 0 0 34
KCNQ1, KCNQ1OT1 6 3 13 11 7 0 0 3 33
TFAP2B 11 1 14 3 4 0 0 0 32
CALM3 5 1 10 10 4 0 0 0 30
NR2F2 8 2 12 6 2 0 0 0 30
CALM1 9 2 7 6 2 0 0 0 25
MHRT, MYH7 0 0 15 7 1 0 0 0 23
​intergenic 8 5 9 0 0 0 0 0 22
TBX20 4 0 17 1 2 0 0 0 22
DSP 1 2 13 1 2 0 0 0 19
MIB1 2 3 4 7 5 0 0 0 18
RYR2 0 2 16 0 0 0 0 0 18
ANKRD1 0 0 3 8 9 0 0 0 16
TAB2 9 4 4 0 0 0 0 0 16
LDB3, LOC110121486 1 0 12 1 3 0 0 0 15
HAND1 0 0 8 1 5 0 0 0 14
JAG1 5 1 7 0 0 0 0 0 13
NOTCH1 1 5 5 0 0 0 0 0 11
TAFAZZIN 0 1 4 5 1 0 0 0 11
ZFPM2 6 0 5 0 0 0 0 0 11
AKAP9, LOC121175350 0 0 7 3 0 0 0 0 10
TBX1 1 2 7 0 0 0 0 0 10
CERS1, GDF1 4 2 3 0 0 0 0 0 8
ACTN2 1 0 4 1 0 0 0 0 6
GATA5 4 0 2 0 0 0 0 0 6
LMNA 3 2 0 0 1 0 0 0 6
MIPEP 1 0 5 0 0 0 0 0 6
CITED2 3 1 1 0 0 0 0 0 5
DMD 1 0 2 1 1 0 0 0 5
JUP 0 0 5 0 0 0 0 0 5
MT-CO1 4 1 0 0 0 0 0 0 5
PKP2 0 2 3 0 0 0 0 0 5
RBM20 1 1 1 0 2 0 0 0 5
TBX5 3 2 0 0 0 0 0 0 5
CTNNA3 0 0 4 0 0 0 0 0 4
DES 2 1 1 0 0 0 0 0 4
MYPN 0 0 3 1 0 0 0 0 4
NEXN 0 1 2 1 0 0 0 0 4
PRDM6 3 0 1 0 0 0 0 0 4
TLL1 4 0 0 0 0 0 0 0 4
UBR4 0 0 4 0 0 0 0 0 4
ABCB8, ABCF2, AGAP3, ASB10, ASIC3, ATG9B, CDK5, CHPF2, CRYGN, FASTK, GBX1, KCNH2, MIR671, NOS3, NUB1, PRKAG2, RHEB, SLC4A2, SMARCD3, TMUB1, WDR86 2 0 1 0 0 0 0 0 3
CFAP53 0 2 1 0 0 0 0 0 3
CHD7 0 1 2 0 0 0 0 0 3
DNASE1L1, TAFAZZIN 0 0 1 1 1 0 0 0 3
DSG2 0 0 2 1 0 0 0 0 3
HCN4 0 0 1 0 2 0 0 0 3
JPH2 0 0 2 0 1 0 0 0 3
LAMA4 0 0 1 2 0 0 0 0 3
LOC114827851, MYH6 0 0 3 0 0 0 0 0 3
MT-CO3 3 0 0 0 0 0 0 0 3
ROBO1 0 3 0 0 0 0 0 0 3
TNNC1 0 1 2 0 0 0 0 0 3
ABCC8 0 2 0 0 0 0 0 0 2
ACTC1 0 0 2 0 0 0 0 0 2
CIT 0 0 2 0 0 0 0 0 2
DIP2A 0 0 1 1 0 0 0 0 2
DPH2 0 0 2 0 0 0 0 0 2
DSC2 0 0 1 1 0 0 0 0 2
GATA4, LOC110120689, LOC110121280, LOC110121281, LOC111365225, SNORA99 1 0 1 0 0 0 0 0 2
GATA4, LOC110121280 0 0 2 0 0 0 0 0 2
HYDIN 0 1 1 0 0 0 0 0 2
KCNE1, KCNE2, SMIM11A 0 0 2 0 0 0 0 0 2
KCNH2, LOC110121275 1 0 1 0 0 0 0 0 2
KCNQ1, KCNQ1OT1, LOC106783508 1 1 0 0 0 0 0 0 2
KIF21B 0 0 2 0 0 0 0 0 2
LRP1 0 0 2 0 0 0 0 0 2
MYLK2 0 0 1 1 0 0 0 0 2
NOS1AP 0 0 2 0 0 0 0 0 2
OBSL1 0 0 2 0 0 0 0 0 2
PI4KA 0 0 2 0 0 0 0 0 2
SMARCA4 0 1 0 1 0 0 0 0 2
SMARCAL1 2 0 0 0 0 0 0 0 2
TCAP 0 0 1 0 1 0 0 0 2
TMEM43 0 0 2 0 0 0 0 0 2
TRPM4 0 0 1 1 0 0 0 0 2
UBR5 0 0 2 0 0 0 0 0 2
VCL 0 0 2 0 0 0 0 0 2
WDR26 0 0 2 0 0 0 0 0 2
ZFYVE16 0 0 2 0 0 0 0 0 2
AAR2 0 1 0 0 0 0 0 0 1
ABCB8, ABCF2, AGAP3, ASB10, ASIC3, ATG9B, CDK5, CHPF2, CRYGN, FASTK, GALNT11, GALNTL5, GBX1, KCNH2, KMT2C, MIR671, NOS3, NUB1, PRKAG2, RHEB, SLC4A2, SMARCD3, TMUB1, WDR86, XRCC2 0 0 1 0 0 0 0 0 1
ABCB8, AOC1, ASIC3, ATG9B, CDK5, GIMAP1, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, KCNH2, NOS3, REPIN1, SLC4A2, TMEM176A, TMEM176B, ZNF775 1 0 0 0 0 0 0 0 1
ABCC9 1 0 0 0 0 0 0 0 1
ABCD4, ACOT1, ACOT2, ACOT4, ACOT6, ACYP1, ALDH6A1, ANGEL1, AREL1, BATF, BBOF1, CIPC, COQ6, DCAF4, DLST, DNAL1, DPF3, EIF2B2, ENTPD5, ERG28, ESRRB, FAM161B, FCF1, FLVCR2, FOS, GPATCH2L, HEATR4, IFT43, IRF2BPL, ISCA2, JDP2, LIN52, LRRC74A, LTBP2, MIDEAS, MLH3, NEK9, NPC2, NUMB, PAPLN, PGF, PNMA1, PROX2, PSEN1, PTGR2, RBM25, RIOX1, RPS6KL1, SYNDIG1L, TGFB3, TMED10, TMEM63C, TTLL5, VASH1, VRTN, VSX2, YLPM1, ZC2HC1C, ZDHHC22, ZFYVE1, ZNF410 0 1 0 0 0 0 0 0 1
ABCF1 0 0 0 1 0 0 0 0 1
ABCG4, ARCN1, ATP5MG, BCL9L, C2CD2L, CBL, CCDC153, CD3D, CD3E, CD3G, CENATAC, CXCR5, DDX6, DPAGT1, FOXR1, H2AX, HINFP, HMBS, HYOU1, IFT46, JAML, KMT2A, MPZL2, MPZL3, NLRX1, PDZD3, PHLDB1, RPS25, SCN2B, SCN4B, SLC37A4, TMEM25, TRAPPC4, TREH, TTC36, UBE4A, UPK2, VPS11 0 0 1 0 0 0 0 0 1
ACAP3, ACTRT2, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES5, INTS11, MIB2, MIR200A, MIR200B, MIR429, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, PANK4, PEX10, PLCH2, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TTC34, TTLL10, UBE2J2, VWA1 0 0 1 0 0 0 0 0 1
ACSS2, ACTL10, AHCY, ASIP, C20orf144, CBFA2T2, CHMP4B, DYNLRB1, E2F1, EDEM2, EIF2S2, GGT7, GSS, ITCH, MAP1LC3A, MIR499A, MYH7B, NCOA6, NECAB3, PIGU, PROCR, PXMP4, RALY, SNTA1, TP53INP2, TRPC4AP, ZNF341 0 0 1 0 0 0 0 0 1
ACTL10, AHCY, ASIP, C20orf144, CBFA2T2, CHMP4B, DYNLRB1, E2F1, EIF2S2, ITCH, MAP1LC3A, NCOA6, NECAB3, PIGU, PXMP4, RALY, SNTA1, TP53INP2, ZNF341 0 0 1 0 0 0 0 0 1
ACTL6A 0 1 0 0 0 0 0 0 1
ADAD2, ATP2C2, C16orf74, CIBAR2, COTL1, COX4I1, CRISPLD2, DNAAF1, EMC8, GINS2, GSE1, HSDL1, IRF8, KCNG4, KIAA0513, KLHL36, LINC01082, LOC654780, MBTPS1, MEAK7, MLYCD, NECAB2, OSGIN1, SLC38A8, TAF1C, USP10, WFDC1, ZDHHC7 0 1 0 0 0 0 0 0 1
AGPAT5, ANGPT2, ARHGEF10, CLN8, CSMD1, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, DLGAP2, ERICH1, FBXO25, KBTBD11, MCPH1, MYOM2, SPAG11A, SPAG11B, TDRP, USP17L1, USP17L4, XKR5, ZNF596, ZNF705B, ZNF705G 1 0 0 0 0 0 0 0 1
AKAP8 0 0 0 1 0 0 0 0 1
AKAP9, ANKIB1, CYP51A1, GATAD1, KRIT1, LOC113748416, LOC121175350, LRRD1, MIR1285-1 0 0 1 0 0 0 0 0 1
ALDH1A3, ASB7, CERS3, LINS1, LRRK1 0 0 1 0 0 0 0 0 1
ALG10 0 0 0 0 0 0 1 0 1
ALPK3 0 0 1 0 0 0 0 0 1
ANKRD31 0 0 0 1 0 0 0 0 1
APBA2, ATP10A, CYFIP1, FAM189A1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TJP1, TUBGCP5, UBE3A 1 0 0 0 0 0 0 0 1
ARHGAP22 0 0 0 1 0 0 0 0 1
ARL13B 0 0 0 1 0 0 0 0 1
ARSD, ARSH, ARSL, GYG2 0 0 1 0 0 0 0 0 1
ARVCF 0 0 0 1 0 0 0 0 1
ASXL3 0 0 1 0 0 0 0 0 1
ATL3 0 0 0 1 0 0 0 0 1
ATP2A1, ATXN2L, CD19, EIF3C, LAT, NFATC2IP, RABEP2, SH2B1, SPNS1, SULT1A1, TUFM 1 0 0 0 0 0 0 0 1
ATP6V0E1, BNIP1, BOD1, C5orf58, CPEB4, CREBRF, DOCK2, DUSP1, EFCAB9, ERGIC1, FBXW11, FGF18, FOXI1, GABRP, INSYN2B, KCNIP1, KCNMB1, LCP2, LOC100128059, LOC100288254, MIR103A1, NEURL1B, NKX2-5, NPM1, PANK3, RANBP17, RARS1, RPL26L1, SH3PXD2B, SLIT3, SMIM23, SNORA74B, SPDL1, STC2, STK10, TENM2, TLX3, UBTD2, WWC1 1 0 0 0 0 0 0 0 1
BAG3 0 0 1 0 0 0 0 0 1
BAIAP3 0 0 0 1 0 0 0 0 1
BCR, GGTLC2, GNAZ, IGLC1, IGLL5, RAB36, RSPH14 1 0 0 0 0 0 0 0 1
BLK, C8orf74, CLDN23, CTSB, ERI1, FAM167A, FDFT1, GATA4, MFHAS1, MIR124-1, MSRA, MTMR9, NEIL2, PINX1, PPP1R3B, PRSS51, PRSS55, RP1L1, SLC35G5, SOX7, TNKS, XKR6 1 0 0 0 0 0 0 0 1
BRAF 0 1 0 0 0 0 0 0 1
C16orf74, C16orf95, CIBAR2, COX4I1, CRISPLD2, EMC8, FBXO31, FENDRR, FOXC2, FOXF1, FOXL1, GINS2, GSE1, IRF8, JPH3, KIAA0513, LINC01082, MAP1LC3B, MTHFSD, ZCCHC14, ZCCHC14-DT, ZDHHC7 1 0 0 0 0 0 0 0 1
C1QTNF9, C1QTNF9B, MIPEP, PCOTH, SACS, SGCG, SPATA13, TNFRSF19 1 0 0 0 0 0 0 0 1
C9orf163, INPP5E, NOTCH1, PMPCA, SEC16A 1 0 0 0 0 0 0 0 1
CACNA1C, CACNA1C-IT3 0 0 1 0 0 0 0 0 1
CACNA2D1 0 0 1 0 0 0 0 0 1
CACNB2, NSUN6 0 0 1 0 0 0 0 0 1
CAV3, LHFPL4, MTMR14, OXTR, RAD18, SETD5, SRGAP3, THUMPD3 0 0 1 0 0 0 0 0 1
CBL 0 0 1 0 0 0 0 0 1
CCDC168 0 0 0 1 0 0 0 0 1
CCN3 0 0 0 1 0 0 0 0 1
CD276 0 0 0 1 0 0 0 0 1
CELSR1 0 0 0 1 0 0 0 0 1
CHEK2 1 0 0 0 0 0 0 0 1
CLIC6, KCNE1, KCNE2, RCAN1, RUNX1, SMIM11A 0 0 1 0 0 0 0 0 1
COL1A2 0 0 1 0 0 0 0 0 1
COL5A2 0 0 1 0 0 0 0 0 1
CREBBP 0 1 0 0 0 0 0 0 1
CRELD1 0 0 1 0 0 0 0 0 1
CTRL 0 0 0 1 0 0 0 0 1
DIPK1A, RPL5 1 0 0 0 0 0 0 0 1
DNA2 0 0 0 1 0 0 0 0 1
ELMOD2 0 0 0 1 0 0 0 0 1
ELN 0 0 1 0 0 0 0 0 1
EPHB4 0 1 0 0 0 0 0 0 1
ERAP1 0 0 0 1 0 0 0 0 1
ERF 0 0 1 0 0 0 0 0 1
EYA4 0 0 1 0 0 0 0 0 1
FBN2 0 0 1 0 0 0 0 0 1
FENDRR, FOXF1 1 0 0 0 0 0 0 0 1
FGF14 0 1 0 0 0 0 0 0 1
FGF2 0 0 0 1 0 0 0 0 1
FHL2 0 0 1 0 0 0 0 0 1
FLNA 0 0 1 0 0 0 0 0 1
FLNC 1 0 0 0 0 0 0 0 1
FLVCR2 0 0 1 0 0 0 0 0 1
FOXP1 0 0 0 0 0 1 0 0 1
FOXP4 0 1 0 0 0 0 0 0 1
FSIP2 0 0 0 1 0 0 0 0 1
GAA 0 0 0 1 0 0 0 0 1
GABRG3 0 0 1 0 0 0 0 0 1
GPATCH2 0 0 0 1 0 0 0 0 1
GPD1L 0 0 0 1 0 0 0 0 1
GUF1 0 0 0 1 0 0 0 0 1
HDAC8 0 1 0 0 0 0 0 0 1
HK3 0 0 0 1 0 0 0 0 1
HKDC1 0 0 0 1 0 0 0 0 1
HNRNPM 0 0 0 1 0 0 0 0 1
HUWE1 0 0 1 0 0 0 0 0 1
ILK, TAF10 0 0 1 0 0 0 0 0 1
INPP5E 1 0 0 0 0 0 0 0 1
INTS8 0 0 0 1 0 0 0 0 1
IRX4 0 0 1 0 0 0 0 0 1
KIF11 0 0 0 1 0 0 0 0 1
KLRG1, PZP 0 0 0 1 0 0 0 0 1
LOC101927055, TTN 0 0 0 0 1 0 0 0 1
LOC110120751, LOC110121223, LOC112577578, LOC112577579, LOC120851201, MIR4251, PRDM16 0 0 1 0 0 0 0 0 1
LOC114827851, MYH6, MYH7 0 0 0 1 0 0 0 0 1
LOC114827851, MYH7 0 0 0 1 0 0 0 0 1
LONP1 0 0 1 0 0 0 0 0 1
LRBA 0 0 0 1 0 0 0 0 1
LRRC8E 0 0 0 1 0 0 0 0 1
MADD, MYBPC3 1 0 0 0 0 0 0 0 1
MDN1 0 0 0 1 0 0 0 0 1
MKI67 0 0 0 1 0 0 0 0 1
MN1 0 0 1 0 0 0 0 0 1
MT-CO2 1 0 0 0 0 0 0 0 1
MYBPHL 0 0 0 1 0 0 0 0 1
MYCN 0 0 1 0 0 0 0 0 1
MYH6, MYH7 0 0 0 1 1 0 0 0 1
MYL2 0 1 0 0 0 0 0 0 1
MYLK 0 0 1 0 0 0 0 0 1
MYLK4 0 0 0 1 0 0 0 0 1
MYRF 0 1 0 0 0 0 0 0 1
NEBL 0 0 0 0 1 0 0 0 1
NET1 0 0 0 1 0 0 0 0 1
NIPBL 1 0 0 0 0 0 0 0 1
NLRP13 0 0 0 1 0 0 0 0 1
NLRX1 0 0 0 1 0 0 0 0 1
NR1D2 0 1 0 0 0 0 0 0 1
NR5A2 0 0 0 1 0 0 0 0 1
NRIP1 0 0 0 1 0 0 0 0 1
NSD1 1 0 0 0 0 0 0 0 1
PIK3CG 0 0 1 0 0 0 0 0 1
PKD1 0 0 1 0 0 0 0 0 1
PKD1L2 0 0 0 1 0 0 0 0 1
PLCB4 0 0 0 1 0 0 0 0 1
POLRMT 0 0 0 1 0 0 0 0 1
PROKR1 0 0 0 1 0 0 0 0 1
PRSS12 0 0 0 1 0 0 0 0 1
PRSS57 0 0 0 1 0 0 0 0 1
PTCH1 0 0 1 0 0 0 0 0 1
PTOV1 0 0 0 1 0 0 0 0 1
PTPN11 1 0 0 0 0 0 0 0 1
RAI2 0 0 1 0 0 0 0 0 1
RALGAPA1 0 0 0 1 0 0 0 0 1
REM1 0 0 0 1 0 0 0 0 1
RET 1 0 0 0 0 0 0 0 1
RIMS1 0 0 1 0 0 0 0 0 1
RNF207 0 1 0 0 0 0 0 0 1
RNF213 0 0 1 0 0 0 0 0 1
ROCK2 0 0 1 0 0 0 0 0 1
RPS6KA3 0 1 0 0 0 0 0 0 1
RTEL1-TNFRSF6B, TNFRSF6B 0 0 0 1 0 0 0 0 1
RYR1 0 0 1 0 0 0 0 0 1
SCN1B 0 0 0 1 0 0 0 0 1
SDC1 0 0 0 1 0 0 0 0 1
SETBP1 0 1 0 0 0 0 0 0 1
SHANK3 0 0 0 1 0 0 0 0 1
SIDT1 0 0 0 1 0 0 0 0 1
SIRT6 0 0 1 0 0 0 0 0 1
SLC2A5 0 0 0 0 0 1 0 0 1
SLC6A17 0 0 0 1 0 0 0 0 1
SNAPC4 0 0 0 1 0 0 0 0 1
SNAPC5 0 0 0 1 0 0 0 0 1
SND1 0 0 0 1 0 0 0 0 1
SOS1 0 0 1 0 0 0 0 0 1
STK32B 0 0 0 1 0 0 0 0 1
SUPT16H 0 0 1 0 0 0 0 0 1
SYK 0 0 0 1 0 0 0 0 1
SYNE2 0 0 1 0 0 0 0 0 1
TBX4 1 0 0 0 0 0 0 0 1
TBXAS1 0 0 1 0 0 0 0 0 1
TCTN3 0 0 0 1 0 0 0 0 1
TDRD6 0 0 0 1 0 0 0 0 1
TECRL 0 1 0 0 0 0 0 0 1
TGFB3 0 0 1 0 0 0 0 0 1
TGFBRAP1 0 0 0 1 0 0 0 0 1
TLNRD1 0 0 0 1 0 0 0 0 1
TNFRSF13B 0 0 1 0 0 0 0 0 1
TOP2A 0 0 0 1 0 0 0 0 1
TRHDE 0 0 0 1 0 0 0 0 1
TRMU 0 0 0 1 0 0 0 0 1
UBR7 0 0 0 1 0 0 0 0 1
UPP1 0 0 0 1 0 0 0 0 1
USP19 0 0 0 1 0 0 0 0 1
VANGL1 0 0 1 0 0 0 0 0 1
VSX1 0 0 0 1 0 0 0 0 1
WDR25 0 0 0 1 0 0 0 0 1
WWC2 0 0 0 1 0 0 0 0 1
YME1L1 0 0 0 1 0 0 0 0 1
ZNF174 0 0 0 1 0 0 0 0 1
ZNF341 0 0 0 1 0 0 0 0 1
ZNF862 0 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 136
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 438 118 3504 1671 624 0 0 0 6355
Illumina Clinical Services Laboratory,Illumina 2 4 1273 438 271 0 0 0 1897
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 0 892 892
OMIM 279 0 4 0 0 0 1 0 284
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 70 29 71 0 0 0 0 0 170
Fulgent Genetics,Fulgent Genetics 29 7 94 0 0 0 0 0 130
Blueprint Genetics 15 19 85 5 0 0 2 0 126
Medical Research Institute,Tokyo Medical and Dental University 0 17 28 74 0 1 0 0 120
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 17 15 53 2 2 0 2 0 91
Baylor Genetics 15 8 65 0 0 0 0 0 88
Centre for Mendelian Genomics,University Medical Centre Ljubljana 13 13 48 1 0 0 0 0 75
CSER _CC_NCGL, University of Washington 1 2 52 9 0 0 0 0 64
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 1 4 30 18 0 0 0 53
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 3 1 7 16 22 0 0 0 49
Integrated Genetics/Laboratory Corporation of America 27 14 0 3 4 0 0 0 48
Mendelics 2 3 24 7 11 0 0 0 47
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 17 27 0 0 0 0 1 0 45
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 5 17 20 3 0 0 0 0 45
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 15 16 11 0 0 0 2 0 44
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 4 16 23 0 0 0 44
Cytogenetics Laboratory,Banaras Hindu University 16 2 14 3 3 0 0 0 38
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 8 12 15 0 0 0 35
Institute of Human Genetics, University of Leipzig Medical Center 5 12 15 2 1 0 0 0 35
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 30 30
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 2 1 10 10 5 0 0 0 28
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 3 6 17 0 0 0 0 0 26
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 3 9 11 0 0 0 24
GeneReviews 21 0 0 0 2 0 0 0 23
Division of Human Genetics,Children's Hospital of Philadelphia 6 6 11 0 0 0 0 0 23
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 4 3 10 3 2 0 0 0 22
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 20 0 0 0 0 0 0 0 20
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 6 5 9 0 0 0 0 0 20
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 5 9 1 2 0 0 0 20
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 8 7 3 0 0 0 0 0 18
Klaassen Lab,Charite University Medicine Berlin 2 5 11 0 0 0 0 0 18
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 1 10 4 3 0 0 0 17
Stankiewicz Research Laboratory, Baylor College of Medicine 17 0 0 0 0 0 0 0 17
Phosphorus, Inc. 0 0 12 0 3 0 0 0 15
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 2 3 9 1 0 0 0 0 15
Johns Hopkins Genomics, Johns Hopkins University 1 1 5 4 4 0 0 0 15
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 5 6 0 1 0 0 0 14
Central Research Laboratory,Sri Devaraj Urs Academy of Higher Education and Research 14 0 0 0 0 0 0 0 14
Laboratory of Genomics, Instituto Nacional de Cardiología Ignacio Chávez 0 0 13 0 0 0 0 0 13
SIB Swiss Institute of Bioinformatics 4 5 4 0 0 0 0 0 13
Institute of Human Genetics, Klinikum rechts der Isar 7 5 0 0 0 0 0 0 12
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 10 0 0 0 0 0 11
Center for Medical Genetics Ghent,University of Ghent 3 6 1 0 0 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 0 0 10 10
Reproductive Health Research and Development,BGI Genomics 0 2 0 0 8 0 0 0 10
Molecular Biology Laboratory, University of Basrah 8 1 0 0 0 0 0 0 9
University of Washington Center for Mendelian Genomics, University of Washington 0 4 4 0 0 0 0 0 8
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 3 5 0 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 4 0 0 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 1 3 0 0 0 0 0 7
New York Genome Center 1 0 6 0 0 0 0 0 7
Clinical Genetics laboratory, University of Goettingen 0 2 4 0 0 0 0 0 6
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 4 0 0 0 0 0 6
Biotechnology Research Center,Pasteur Institute of Iran 4 2 0 0 0 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 0 0 6
Genomic Medicine Lab, University of California San Francisco 2 1 3 0 0 0 0 0 6
George Lab Vanderbilt University 0 5 0 0 0 0 0 0 5
Clinical Genetics, Erasmus University Medical Center 3 2 0 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 3 0 0 0 0 0 5
Clinical Genetics Research Group,Karolinska Institutet 2 0 3 0 0 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 2 2 0 0 0 0 0 4
Center for Human Genetics,University of Leuven 2 1 0 1 0 0 0 0 4
Heart Center,Academic Medical Center Amsterdam 0 4 0 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 3 0 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 1 2 0 0 0 0 0 0 3
Congenital Heart Disease Genetic Program Lab,American University of Beirut 3 0 0 0 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 0 0 3
National Institute on Deafness and Communication Disorders,National Institutes of Health 3 0 0 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 1 0 0 0 0 0 3
Institute of Human Genetics,University of Wuerzburg 1 1 1 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 0 0 3
Embryology Laboratory,Victor Chang Cardiac Research Institute 3 0 0 0 0 0 0 0 3
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 1 1 1 0 0 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 2 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 0 0 1 0 0 0 2
Leiden Muscular Dystrophy (TPM1) 0 0 0 0 0 0 0 2 2
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 1 1 0 0 0 0 0 2
Neurogenetics Laboratory,Royal Perth Hospital 2 0 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 0 2
Andelfinger Lab,Centre de Recherche, CHU Sainte Justine 1 1 0 0 0 0 0 0 2
Department of Medical Biology, Academic Medical Center 0 2 0 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 1 0 0 0 0 0 0 2
Bioinformatics dept.,Datar Cancer Genetics Limited, India 0 2 0 0 0 0 0 0 2
Donald Williams Parsons Laboratory,Baylor College of Medicine 2 0 0 0 0 0 0 0 2
Laboratory of Research in Genomics, Genetics and Bioinformatics,Hospital Infantil de Mexico Federico Gomez 0 2 0 0 0 0 0 0 2
Undiagnosed Diseases Network,NIH 0 1 1 0 0 0 0 0 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 1 0 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 1 1 0 0 0 0 0 0 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 0 0 0 0 0 0 0 1
Health in Code S.L. 0 1 0 0 0 0 0 0 1
Garg Lab, Nationwide Children's Hospital 0 0 0 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 0 0 1
McDonald Lab; Albert Einstein College of Medicine 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 0 0 0 0 0 0 0 1
Center for Molecular Medicine, University Medical Center Utrecht 0 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 0 1
Centre for Genomic and Experimental Medicine,University of Edinburgh 1 0 0 0 0 0 0 0 1
Gene Discovery Core-Manton Center,Boston Children's Hospital 0 1 0 0 0 0 0 0 1
Choi Lab,Seoul National University 0 1 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 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 1
Human Genetics and Genome Research Division,National Research Centre 0 1 0 0 0 0 0 0 1
School of Life Sciences,Manipal University 1 0 0 0 0 0 0 0 1
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 0 0 1 0 0 0 0 0 1
Cardiovascular Research Laboratory,Shanghai Chest Hospital, Shanghai Jiao Tong University 1 0 0 0 0 0 0 0 1
Translational Genomics Laboratory,University of Maryland School of Medicine 0 1 0 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 0 0 1
Hereditary Hearing Loss Research Unit,University of Madras 1 0 0 0 0 0 0 0 1
Division of Laboratory Medicine and Clinical Genetics,Chiba University Hospital 1 0 0 0 0 0 0 0 1
Akbari laboratory,Tarbiat Modares University 0 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 0 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 0 0 1
Guangdong Provincial Key Laboratory of South China Structural Heart Disease,Guangdong Cardiovascular Institute 0 1 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 1 0 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 0 1
Medical Genetics,American University of Beirut 1 0 0 0 0 0 0 0 1
Swiss DNAlysis 1 0 0 0 0 0 0 0 1
Clinical Genetics,Amsterdam Medical Centre 0 0 1 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 1 0 0 0 0 0 0 1
Cardiogenomic Section,Hospital Ramos Mejia 1 0 0 0 0 0 0 0 1
Department of Medical Genetics,Nizam's Institute of Medical Sciences 1 0 0 0 0 0 0 0 1
Indiana University School of Medicine, Medical & Molecular Genetics, Indiana University School of Medicine 1 0 0 0 0 0 0 0 1
Quironsalud Teknon Heart Institute,Quironsalud Teknon Hospital 0 0 1 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 0 1
Division of Biology and Genetics,University of Brescia 1 0 0 0 0 0 0 0 1
Center of Genetics and Reproductive Medicine "Genetico" 0 1 0 0 0 0 0 0 1
Medical Genetics Laboratory,CHRU Nancy 1 0 0 0 0 0 0 0 1
Precision Medical Center,Wuhan Children's Hospital 1 0 0 0 0 0 0 0 1

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