ClinVar Miner

Variants studied for congenital heart disease

Included ClinVar conditions (273):
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
844 367 4514 1764 953 2 5 911 8396

Gene and significance breakdown #

Total genes and gene combinations: 337
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
KCNH2 182 73 488 168 35 0 1 357 1100
CACNA1C 8 6 446 275 213 0 0 8 896
ANK2 4 6 551 190 90 0 0 12 770
KCNQ1 171 70 247 90 39 0 0 280 699
AKAP9 1 4 360 120 68 0 0 0 496
SCN5A 26 19 194 51 29 0 0 161 403
PRDM16 5 0 199 91 44 0 0 0 337
KCNJ2 32 9 133 24 45 0 0 42 258
ACTC1, LOC101928174 8 3 170 47 11 0 0 0 219
TNNT2 25 8 141 36 10 0 0 0 209
GATA4 40 3 95 31 32 0 0 0 184
MYH7 26 20 79 39 8 0 0 1 168
MYBPC3 19 10 79 26 43 0 0 0 167
KCNE1 10 6 95 45 31 0 1 25 163
KCNJ5 3 1 96 34 25 0 0 0 153
SNTA1 2 2 97 39 21 0 0 0 135
DTNA 2 0 69 48 21 0 0 0 133
NKX2-5 38 3 64 17 13 0 0 0 126
MYH6 2 0 85 29 1 0 0 0 115
SCN4B 3 0 71 34 4 0 0 0 110
TFAP2B 11 1 39 31 23 0 0 0 104
GATA6 8 1 59 25 15 0 0 0 103
MED13L 13 4 38 24 20 0 0 1 98
CAV3 5 6 53 23 9 0 0 0 86
FOXF1 22 5 19 22 14 0 0 0 81
GJA1 2 0 52 5 6 0 0 0 64
KCNE2 3 1 35 14 7 0 1 10 47
TTN 1 10 24 3 9 0 0 0 47
TPM1 7 4 29 3 1 0 0 2 43
LDB3 5 0 29 7 1 0 0 0 41
LOC110121269, SCN5A 2 1 19 7 4 0 1 11 36
CAV3, SSUH2 5 1 20 5 2 0 0 0 31
CALM2 9 9 11 5 2 0 0 0 29
KCNQ1, KCNQ1OT1 6 2 11 11 7 0 0 1 29
NKX2-6 2 1 12 7 3 0 0 0 24
NR2F2 8 2 9 3 2 0 0 0 24
​intergenic 8 5 9 0 0 0 0 0 22
CALM1 9 2 6 4 2 0 0 0 22
CALM3 5 1 8 4 4 0 0 0 22
TBX20 4 0 16 1 2 0 0 0 22
MHRT, MYH7 0 0 13 7 1 0 0 0 21
DSP 1 2 13 1 2 0 0 0 19
RYR2 0 2 15 0 0 0 0 0 17
ANKRD1 0 0 3 8 9 0 0 0 16
MIB1 2 2 3 7 5 0 0 0 16
LOC114827851, MYH6 0 0 10 5 0 0 0 0 15
LDB3, LOC110121486 1 0 10 1 2 0 0 0 13
TAZ 0 1 4 5 1 0 0 0 11
HAND1 0 0 4 0 5 0 0 0 9
TAB2 5 3 2 0 0 0 0 0 9
JAG1 3 1 4 0 0 0 0 0 8
ZFPM2 6 0 2 0 0 0 0 0 8
TBX1 1 2 4 0 0 0 0 0 7
LMNA 3 2 0 0 1 0 0 0 6
MIPEP 1 0 5 0 0 0 0 0 6
ACTN2 1 0 3 1 0 0 0 0 5
DMD 1 0 2 1 1 0 0 0 5
MT-CO1 4 1 0 0 0 0 0 0 5
NOTCH1 1 2 2 0 0 0 0 0 5
TBX5 3 2 0 0 0 0 0 0 5
CERS1, GDF1 4 1 0 0 0 0 0 0 4
CHD7 1 1 2 0 0 0 0 0 4
CITED2 3 1 0 0 0 0 0 0 4
CTNNA3 0 0 4 0 0 0 0 0 4
DES 2 1 1 0 0 0 0 0 4
GATA5 4 0 0 0 0 0 0 0 4
NSD1 2 1 1 0 0 0 0 0 4
PKP2 0 2 2 0 0 0 0 0 4
RBM20 1 1 0 0 2 0 0 0 4
TLL1 4 0 0 0 0 0 0 0 4
UBR4 0 0 4 0 0 0 0 0 4
CFAP53 0 2 1 0 0 0 0 0 3
DNAH5 1 0 2 0 0 0 0 0 3
DNASE1L1, TAZ 0 0 1 1 1 0 0 0 3
DSG2 0 0 2 1 0 0 0 0 3
JPH2 0 0 2 0 1 0 0 0 3
JUP 0 0 3 0 0 0 0 0 3
LAMA4 0 0 1 2 0 0 0 0 3
MT-CO3 3 0 0 0 0 0 0 0 3
MYPN 0 0 2 1 0 0 0 0 3
NEXN 0 1 1 1 0 0 0 0 3
PKD1 0 0 3 0 0 0 0 0 3
PRDM6 3 0 0 0 0 0 0 0 3
WDR26 1 0 2 0 0 0 0 0 3
ABCA4 2 0 0 0 0 0 0 0 2
ABCB8, ABCF2, AGAP3, ASB10, ASIC3, ATG9B, CDK5, CHPF2, CRYGN, FASTK, GBX1, KCNH2, MIR671, NOS3, NUB1, PRKAG2, RHEB, SLC4A2, SMARCD3, TMUB1, WDR86 1 0 1 0 0 0 0 0 2
ABCC8 0 2 0 0 0 0 0 0 2
ALPL 0 1 1 0 0 0 0 0 2
ARVCF 0 0 1 1 0 0 0 0 2
BRAF 0 1 1 0 0 0 0 0 2
CCDC40 0 1 1 0 0 0 0 0 2
CHEK2 2 0 0 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
DNAH11 0 1 1 0 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
FBN1 0 1 1 0 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
HCN4 0 0 0 0 2 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
KIAA1109 0 1 1 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
MYO7A 0 0 2 0 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
PKD1L1 0 0 2 0 0 0 0 0 2
RYR1 0 0 2 0 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
TNNC1 0 1 1 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
ZFYVE16 0 0 2 0 0 0 0 0 2
AAR2 0 1 0 0 0 0 0 0 1
ABCB11 1 0 0 0 0 0 0 0 1
ABCB4 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
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
ACTA2 0 0 1 0 0 0 0 0 1
ACTC1 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
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, 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
ANKRD11 0 1 0 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
ARHGAP31 0 0 1 0 0 0 0 0 1
ARID1B 1 0 0 0 0 0 0 0 1
ARL13B 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
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
BBS1, ZDHHC24 1 0 0 0 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
C16orf74, C16orf95, CIBAR2, COX4I1, CRISPLD2, EMC8, FBXO31, FENDRR, FOXC2, FOXF1, FOXL1, GINS2, GSE1, IRF8, JPH3, KIAA0513, LINC01082, LOC101928737, MAP1LC3B, MTHFSD, ZCCHC14, 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
CA2 0 1 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
CEP152 0 1 0 0 0 0 0 0 1
CEP290 0 0 1 0 0 0 0 0 1
CHD4 0 0 1 0 0 0 0 0 1
CLIC6, KCNE1, KCNE2, RCAN1, RUNX1, SMIM11A 0 0 1 0 0 0 0 0 1
COL1A1 1 0 0 0 0 0 0 0 1
COL2A1 0 0 1 0 0 0 0 0 1
COL5A1 0 1 0 0 0 0 0 0 1
COL5A2 0 0 1 0 0 0 0 0 1
COL6A3 0 0 1 0 0 0 0 0 1
COQ8A 0 1 0 0 0 0 0 0 1
CPT2 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
CYP11B1, LOC106799833 0 0 1 0 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
EHMT1 0 1 0 0 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
EVC2 0 1 0 0 0 0 0 0 1
EYA4 0 0 1 0 0 0 0 0 1
FANCA 1 0 0 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
FGFR2 1 0 0 0 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
FLNB 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
FRMD4A 0 0 1 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
GLB1 0 1 0 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
HINT1 1 0 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
KLF1 0 0 1 0 0 0 0 0 1
KLRG1, PZP 0 0 0 1 0 0 0 0 1
KMT2D 0 0 1 0 0 0 0 0 1
LOC101927055, TTN 0 0 0 0 1 0 0 0 1
LOC110120751, LOC110121223, LOC112577578, LOC112577579, 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
LRBA 0 0 0 1 0 0 0 0 1
LRP5 0 0 1 0 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
MTOR 0 0 1 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
MYH3 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
NDN 0 0 1 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
P4HB 0 0 1 0 0 0 0 0 1
PAFAH1B1 0 1 0 0 0 0 0 0 1
PEX6 1 0 0 0 0 0 0 0 1
PIK3CG 0 0 1 0 0 0 0 0 1
PKD1L2 0 0 0 1 0 0 0 0 1
PKHD1 0 1 0 0 0 0 0 0 1
PLCB4 0 0 0 1 0 0 0 0 1
PNP 0 0 1 0 0 0 0 0 1
POLRMT 0 0 0 1 0 0 0 0 1
PRKAG2 0 0 1 0 0 0 0 0 1
PRKCE 0 0 1 0 0 0 0 0 1
PROKR1 0 0 0 1 0 0 0 0 1
PRPF6 0 0 1 0 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
RAD51C 1 0 0 0 0 0 0 0 1
RAF1 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
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
SLC25A3 0 0 1 0 0 0 0 0 1
SLC26A3 1 0 0 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
SMAD4 0 0 1 0 0 0 0 0 1
SMARCA4 0 0 1 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
SOS2 1 0 0 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
TBCE 0 1 0 0 0 0 0 0 1
TBX18 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
TOE1 0 1 0 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
TRIP12 0 0 1 0 0 0 0 0 1
TRMU 0 0 0 1 0 0 0 0 1
TYR 0 0 1 0 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
WNK1 0 0 1 0 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
ZIC2 0 0 1 0 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: 123
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 335 93 2581 995 623 0 0 0 4627
Illumina Clinical Services Laboratory,Illumina 0 4 1499 644 318 0 0 0 2362
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 0 892 892
OMIM 270 0 4 0 0 0 1 6 281
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 60 24 68 0 0 0 0 0 152
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 28 27 61 1 0 0 0 0 116
CSER _CC_NCGL, University of Washington 1 2 52 9 0 0 0 0 64
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 13 13 33 2 1 0 2 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
Mendelics 2 3 24 7 11 0 0 0 47
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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 1 4 16 23 0 0 0 44
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 16 25 0 0 0 0 1 0 42
Integrated Genetics/Laboratory Corporation of America 22 11 0 3 4 0 0 0 40
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 1 10 10 5 0 0 0 27
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 11 6 0 0 0 23
GeneReviews 21 0 0 0 2 0 0 0 23
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 20 0 0 0 0 0 0 0 20
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 10 8 0 0 0 0 2 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
Division of Human Genetics,Children's Hospital of Philadelphia 5 3 11 0 0 0 0 0 19
Baylor Genetics 8 2 8 0 0 0 0 0 18
Klaassen Lab,Charite University Medicine Berlin 2 5 11 0 0 0 0 0 18
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 10 4 3 0 0 0 17
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 7 7 2 0 0 0 0 0 16
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
Stankiewicz Research Laboratory,Baylor College of Medicine 15 0 0 0 0 0 0 0 15
Cytogenetics Laboratory,Banaras Hindu University 12 0 2 0 0 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
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 3 2 2 3 2 0 0 0 12
Institute of Human Genetics,Klinikum rechts der Isar 5 5 0 0 0 0 0 0 10
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
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 4 3 0 0 0 0 0 9
Molecular Biology Laboratory,University of Basrah 8 1 0 0 0 0 0 0 9
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 8 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
Johns Hopkins Genomics,Johns Hopkins University 0 0 4 0 3 0 0 0 7
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
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 0 2 0 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 0 0 5
Genomic Medicine Lab, University of California San Francisco 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 Genetic Testing Laboratories,Mayo Clinic 0 2 2 0 0 0 0 0 4
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 4 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 2 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
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
Genetic Services Laboratory, University of Chicago 1 0 0 0 1 0 0 0 2
Institute of Human Genetics,University of Goettingen 0 1 1 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 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
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
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
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
University of Washington Center for Mendelian Genomics, University of Washington 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
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
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
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
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 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

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