ClinVar Miner

Variants studied for Hypertrophic cardiomyopathy

Coded as:
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Gene type:
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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
266 120 2140 875 169 2 3488

Gene and significance breakdown #

Total genes and gene combinations: 61
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 0 0 704 230 0 0 934
MYBPC3 158 42 278 126 36 2 616
MYH7 74 54 322 146 35 0 595
MYOM1 0 1 105 65 51 0 221
MYH6 0 0 78 28 0 0 106
MHRT, MYH7 6 5 62 21 9 0 99
TNNI3 12 9 52 21 6 0 96
TPM1 5 4 57 26 4 0 92
ACTC1, LOC101928174 0 0 72 14 0 0 85
JPH2 0 0 43 22 14 0 79
ACTN2 0 0 51 18 0 0 69
LAMP2 0 0 37 26 0 0 63
MYOZ2 0 0 28 24 5 0 52
MYL3 3 0 30 12 4 0 48
NEXN 0 0 33 7 0 0 40
MYLK2 0 0 28 8 0 0 36
CSRP3 0 0 24 6 0 0 30
TNNT2 1 2 13 8 0 0 24
CAV3 0 0 15 8 0 0 23
CEP85L, PLN 0 0 17 4 0 0 21
DNAAF3, TNNI3 0 0 0 17 2 0 18
LOC101927055, TTN 0 0 5 11 0 0 16
LOC114827851, MYH6 0 0 9 5 0 0 14
MYL2 0 2 7 1 0 0 10
TCAP 0 0 7 3 0 0 10
TNNC1 1 0 8 1 0 0 10
FLNC 0 0 7 1 0 0 8
RYR2 0 0 8 0 0 0 8
GLA, RPL36A-HNRNPH2 0 0 2 4 1 0 7
LOC114827850, MYL2 1 0 4 1 1 0 7
CAV3, SSUH2 0 0 2 2 0 0 4
PRKAG2 2 1 1 0 0 0 4
DSP 0 0 3 0 0 0 3
TNNI3, TNNT1 0 0 0 3 0 0 3
VCL 0 0 2 1 0 0 3
ANK2 0 0 2 0 0 0 2
CALR3 0 0 1 1 0 0 2
DSG2 1 0 0 1 0 0 2
HCN4 0 0 2 0 0 0 2
KCNH2 0 0 2 0 0 0 2
MYPN 0 0 2 0 0 0 2
SCN5A 0 0 2 0 0 0 2
TRPM4 0 0 2 0 0 0 2
ACP2, ARFGAP2, C11orf49, DDB2, LOC101928943, LRP4, MADD, MYBPC3, NR1H3, PACSIN3, PSMC3, RAPSN, SLC39A13, SPI1 1 0 0 0 0 0 1
AKAP9 0 0 1 0 0 0 1
ANKRD1 0 0 1 0 0 0 1
CRYAB 0 0 1 0 0 0 1
DSC2 0 0 1 0 0 0 1
GJA5 0 0 1 0 0 0 1
JPH2, LOC108353820 0 0 1 0 0 0 1
KCNE1 0 0 1 0 0 0 1
KCNJ5 0 0 1 0 0 0 1
LDB3 0 0 1 0 0 0 1
LMNA 0 0 1 0 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
MYH6, MYH7 0 0 0 1 1 0 1
PTPN11 1 0 0 0 0 0 1
TGFB3 0 0 1 0 0 0 1
TMEM43 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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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 242 79 841 384 158 0 1704
Center for Human Genetics,University of Leuven 41 28 85 1 0 0 155
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 19 12 6 0 0 0 37
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 13 2 6 0 21
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 3 5 2 0 0 11
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 3 5 0 0 0 11
CSER_CC_NCGL; University of Washington Medical Center 0 2 2 1 0 0 5
Fulgent Genetics 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 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
GenomeConnect, ClinGen 0 0 0 0 0 2 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

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