ClinVar Miner

Variants studied for Hypertrophic cardiomyopathy

Coded as:
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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
403 257 2505 690 36 3 3792

Gene and significance breakdown #

Total genes and gene combinations: 90
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 0 0 712 247 7 0 957
MYBPC3 270 67 350 43 5 3 708
MYH7 82 106 439 80 7 0 670
MYOM1 0 1 143 24 2 0 170
MHRT, MYH7 7 4 87 13 3 0 113
TNNI3 12 20 70 14 0 0 111
MYH6 0 0 79 29 0 0 107
TPM1 7 10 69 18 0 0 101
ACTC1, LOC101928174 1 2 75 14 0 0 90
LAMP2 0 7 37 27 0 0 71
ACTN2 0 0 52 18 0 0 70
JPH2 0 0 54 10 0 0 64
MYL3 4 3 43 7 0 0 53
MYOZ2 0 0 33 17 0 0 50
TNNT2 8 13 14 8 0 0 43
NEXN 0 0 34 7 0 0 41
MYLK2 0 0 30 8 0 0 38
CSRP3 0 0 26 6 0 0 32
CEP85L, PLN 1 1 18 4 0 0 24
CAV3 0 0 15 8 0 0 23
DNAAF3, TNNI3 0 0 0 17 0 0 17
MYL2 1 8 7 1 0 0 17
LOC101927055, TTN 0 0 5 11 0 0 16
LOC114827851, MYH6 0 0 9 5 0 0 14
PRKAG2 4 6 4 0 0 0 14
RYR2 0 0 13 1 0 0 14
TCAP 0 1 8 3 0 0 12
TNNC1 1 1 8 1 0 0 11
LOC114827850, MYL2 1 3 4 1 1 0 9
FLNC 0 0 7 1 0 0 8
GLA, RPL36A-HNRNPH2 0 0 2 4 1 0 7
ANK2 0 0 4 1 0 0 5
DSC2 0 0 1 4 0 0 5
RBM20 0 0 3 1 1 0 5
TRPM4 0 0 3 1 1 0 5
VCL 0 0 4 1 0 0 5
CAV3, SSUH2 0 0 2 2 0 0 4
DSP 0 0 4 0 0 0 4
LDB3 0 0 3 1 0 0 4
AKAP9 0 0 1 2 0 0 3
ALPK3 0 3 0 0 0 0 3
DSG2 1 0 1 1 0 0 3
HCN4 0 0 2 1 0 0 3
KCNH2 0 0 2 1 0 0 3
MYPN 0 0 3 0 0 0 3
TNNI3, TNNT1 0 0 0 3 0 0 3
ANKRD1 0 0 1 1 0 0 2
BAG3 0 0 1 0 1 0 2
CACNA1C 0 0 0 1 1 0 2
CALR3 0 0 1 1 0 0 2
CRYAB 0 0 2 0 0 0 2
CTF1 0 0 1 1 0 0 2
DMD 0 0 1 0 1 0 2
FKTN 0 0 0 1 1 0 2
GAA 0 0 0 2 0 0 2
KCNJ5 0 0 1 1 0 0 2
KCNJ8 0 0 0 2 0 0 2
LMNA 0 0 2 0 0 0 2
PTPN11 2 0 0 0 0 0 2
SCN5A 0 0 2 0 0 0 2
TGFB3 0 0 1 1 0 0 2
TMPO 0 0 0 2 0 0 2
ABCC9 0 0 1 0 0 0 1
ACP2, ARFGAP2, C11orf49, DDB2, LRP4, MADD, MYBPC3, NR1H3, PACSIN3, PSMC3, RAPSN, SLC39A13, SPI1 1 0 0 0 0 0 1
BRAF 0 0 1 0 0 0 1
DNAAF3, MIR6802, MIR6803, MIR6804, PPP6R1, PTPRH, SYT5, TMEM86B, TNNI3, TNNT1 0 0 1 0 0 0 1
DTNA 0 0 0 1 0 0 1
EYA4 0 0 0 0 1 0 1
FHL1 0 0 1 0 0 0 1
FXN 0 0 1 0 0 0 1
GJA5 0 0 1 0 0 0 1
GPD1L 0 0 0 1 0 0 1
JPH2, LOC108353820 0 0 1 0 0 0 1
KCNE1 0 0 1 0 0 0 1
KCNJ2 0 0 1 0 0 0 1
KCNQ1 0 0 0 1 0 0 1
LOC110121269, SCN5A 0 0 0 1 0 0 1
LOC114827851, MHRT, MIR208B, MYH6, MYH7 0 0 1 0 0 0 1
LOC114827851, MYH6, MYH7 0 0 0 1 0 0 1
LOC114827851, MYH7 0 0 0 1 0 0 1
MAP2K2 0 0 0 0 1 0 1
MYH6, MYH7 0 0 0 1 1 0 1
NKX2-5 0 0 1 0 0 0 1
PDLIM3 0 0 0 0 1 0 1
PKP2 0 0 0 1 0 0 1
SGCA 0 0 0 1 0 0 1
SGCB 0 0 0 1 0 0 1
SOS1 0 0 0 1 0 0 1
TMEM43 0 0 1 0 0 0 1
TRIM63 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 1216 499 10 0 1723
Invitae 272 82 1139 132 4 0 1629
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 215 153 0 0 0 0 368
Center for Human Genetics,University of Leuven 41 28 85 1 0 0 155
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 6 4 28 51 16 0 105
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 14 7 44 4 1 0 70
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 19 12 6 0 0 0 37
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 13 2 6 0 21
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 2 3 9 2 0 0 16
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 3 5 0 0 0 11
CSER _CC_NCGL, University of Washington 0 2 2 1 0 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 1 2 0 0 0 5
Institute of Human Genetics,University of Wuerzburg 0 2 2 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Molecular Cardiogenetic Lab,Hospices Civils de Lyon 3 0 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Phosphorus, Inc. 0 0 1 1 0 0 2
Rampazzo Lab, Human Molecular Genetics Unit,University of Padua 2 0 0 0 0 0 2
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 1 0 0 0 0 1
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 1 0 0 0 0 0 1
Clinical Genetics Laboratory,Skane University Hospital Lund 1 0 0 0 0 0 1

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