ClinVar Miner

Variants studied for Hypertrophic cardiomyopathy

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
1028 607 6807 4363 386 3 12841

Gene and significance breakdown #

Total genes and gene combinations: 142
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYBPC3 679 172 1645 1108 71 3 3539
MYH7 178 217 1592 1073 66 0 3025
MYOM1 0 1 941 566 96 0 1601
JPH2 1 0 398 244 28 0 670
TPM1 18 27 334 252 11 0 622
TNNI3 44 41 321 223 15 0 614
MYL3 6 4 254 126 12 0 390
LOC126861897, MHRT, MYH7 9 12 211 142 5 0 376
PRKAG2 4 6 202 125 11 0 347
LOC126861898, MYH7 42 59 141 87 6 0 316
MHRT, MYH7 11 7 139 118 11 0 283
MYOZ2 0 0 116 47 12 0 175
ACTC1, GJD2-DT 1 2 50 87 2 0 141
MYL2 2 9 85 37 4 0 134
TTN 1 0 36 38 6 0 81
LOC126861897, MYH7 4 2 43 22 1 0 71
TNNT2 10 18 12 1 8 0 42
LOC114827850, MYL2 1 4 18 11 2 0 34
MYH6 0 0 18 2 0 0 20
RYR2 0 0 15 1 0 0 16
CSRP3 0 1 12 3 0 0 14
TRIM63 3 2 11 1 0 0 14
FLNC 0 0 12 1 0 0 13
ACTN2 0 0 12 0 0 0 12
ALPK3 0 7 5 0 0 0 12
LAMP2 1 6 0 3 2 0 12
FHOD3 0 0 10 0 0 0 10
MYPN 0 0 9 1 0 0 10
DSP 0 0 9 0 0 0 9
MIR208B, MYH6, MYH7 0 0 9 0 0 0 9
MYLK2 0 0 6 1 1 0 8
MIR208A, MYH6, MYH7 0 0 7 0 0 0 7
RBM20 0 0 4 1 1 0 6
VCL 0 0 5 1 0 0 6
ANK2 0 0 4 1 0 0 5
CACNB2 0 0 5 0 0 0 5
CALR3 0 0 4 1 0 0 5
DSC2 0 0 1 4 0 0 5
DSG2 0 0 4 1 0 0 5
GLA, RPL36A-HNRNPH2 1 1 0 2 2 0 5
LDB3 0 0 3 2 0 0 5
NEXN 0 0 3 1 1 0 5
TCAP 0 1 3 0 1 0 5
TRPM4 0 0 3 1 1 0 5
MIR208B, MYH7 0 0 4 0 0 0 4
PKP2 1 1 0 2 0 0 4
SCN5A 0 0 4 0 0 0 4
AKAP9 0 0 1 2 0 0 3
CACNA1C 0 0 1 1 1 0 3
DMD 0 0 2 0 1 0 3
KCNH2 0 0 2 1 0 0 3
KLHL24 0 0 3 0 0 0 3
MIR208A, MIR208B, MYH6, MYH7 0 0 3 0 0 0 3
NEBL 0 0 2 0 1 0 3
TNNC1 1 2 0 0 0 0 3
ABCA1 0 0 2 0 0 0 2
ABCC9, KCNJ8 0 0 2 0 0 0 2
ANKRD1 0 0 1 1 0 0 2
BAG3 0 0 1 0 1 0 2
CEP85L, PLN 1 1 0 0 0 0 2
CRYAB 0 0 2 0 0 0 2
CTF1, LOC130058878 0 0 1 1 0 0 2
DTNA 0 0 1 1 0 0 2
EMILIN2, LPIN2, MYOM1, SMCHD1 0 0 2 0 0 0 2
FKTN 0 0 0 1 1 0 2
GAA 0 0 0 2 0 0 2
GTPBP3 0 0 2 0 0 0 2
HCN4 0 0 2 0 0 0 2
KCNJ5 0 0 1 1 0 0 2
KCNJ8 0 0 0 2 0 0 2
KCNQ1 0 0 1 1 0 0 2
LMNA 0 0 2 0 0 0 2
LOC101927055, TTN 0 0 2 0 0 0 2
LOC114827851, LOC126861897, MHRT, MIR208B, MYH6, MYH7 0 0 2 0 0 0 2
LOC126806067, RYR2 0 0 2 0 0 0 2
LOC126861896, MYH6 0 0 2 0 0 0 2
MYBPC3, SLC39A13, SPI1 1 0 1 0 0 0 2
POLG 2 0 0 0 0 0 2
PTPN11 2 0 0 0 0 0 2
SVIL 0 0 2 0 0 0 2
TGFB3 0 0 1 1 0 0 2
TMEM43 1 0 1 0 0 0 2
TMPO 0 0 0 2 0 0 2
TNNI3, TNNT1 0 0 2 0 0 0 2
TTR 0 0 1 0 1 0 2
ACAD9 0 1 0 0 0 0 1
ACP2, ARFGAP2, CSTPP1, DDB2, LRP4, MADD, MYBPC3, NR1H3, PACSIN3, PSMC3, RAPSN, SLC39A13, SPI1 1 0 0 0 0 0 1
ACTL8, ALDH4A1, ARHGEF10L, ATP13A2, CROCC, EMC1, IFFO2, IGSF21, KLHDC7A, LINC01654, LINC02783, LINC02810, LOC108175348, LOC108254694, LOC111828503, LOC120893114, LOC120893115, LOC120893116, LOC121677387, LOC122056775, LOC122056776, LOC122056777, LOC126805634, LOC126805635, LOC126805636, LOC126805637, LOC126805638, LOC126805639, LOC126805640, LOC126805641, LOC126805642, LOC126805643, LOC126805644, LOC129388459, LOC129929537, LOC129929538, LOC129929539, LOC129929540, LOC129929541, LOC129929542, LOC129929543, LOC129929544, LOC129929545, LOC129929546, LOC129929547, LOC129929548, LOC129929549, LOC129929550, LOC129929551, LOC129929552, LOC129929553, LOC129929554, LOC129929555, LOC129929556, LOC129929557, LOC129929558, LOC129929559, LOC129929560, LOC129929561, LOC129929562, LOC129929563, LOC129929564, LOC129929565, LOC129929566, LOC129929567, MFAP2, MIR1290, MIR3972, MIR4695, PADI1, PADI2, PADI3, PADI4, PADI6, PAX7, RCC2, SDHB, TAS1R2, UBR4 1 0 0 0 0 0 1
ANK2, LOC126807136 0 0 1 0 0 0 1
APH1B, CA12, FBXL22, HERC1, LACTB, RAB8B, RPS27L, TPM1, USP3 0 0 1 0 0 0 1
BRAF 0 0 1 0 0 0 1
C2CD4A, C2CD4B, TLN2, TPM1, VPS13C 0 0 1 0 0 0 1
CAV3, OXTR 0 0 1 0 0 0 1
CELSR3 0 0 1 0 0 0 1
COL1A1 0 0 1 0 0 0 1
CUX2 0 0 1 0 0 0 1
DES 0 0 1 0 0 0 1
DNAAF3, LOC130065089, LOC130065090, LOC130065091, LOC130065092, LOC130065093, LOC130065094, LOC130065095, LOC130065096, LOC130065097, MIR6802, MIR6803, MIR6804, PPP6R1, PTPRH, SYT5, TMEM86B, TNNI3, TNNT1 0 0 1 0 0 0 1
EMD 0 0 1 0 0 0 1
EMILIN2, LPIN2, MYL12A, MYL12B, MYOM1, SMCHD1, TGIF1 0 0 1 0 0 0 1
ETFDH 0 1 0 0 0 0 1
EYA4 0 0 0 0 1 0 1
FHL1 0 0 1 0 0 0 1
FHOD3, LOC130062385 0 0 1 0 0 0 1
FXN, LOC130001862 0 0 1 0 0 0 1
GJA5, LOC122128420 0 0 1 0 0 0 1
GPD1L 0 0 0 1 0 0 1
GPR149 0 0 1 0 0 0 1
HCN4, LOC105370890, LOC126862173 0 0 0 1 0 0 1
JPH2, LOC108353820, LOC121853007 0 0 1 0 0 0 1
JUP 0 0 1 0 0 0 1
KCNE1 0 0 1 0 0 0 1
KCNJ2 0 0 1 0 0 0 1
KIF5B 0 1 0 0 0 0 1
LAMA2 0 0 1 0 0 0 1
LOC110121269, SCN5A 0 0 0 1 0 0 1
LOC126806068, RYR2 0 0 1 0 0 0 1
LOC126806420, TTN 0 0 1 0 0 0 1
LOC126806422, TTN 0 0 1 0 0 0 1
LOC126806424, TTN 0 0 0 1 0 0 1
LOC126806426, TTN 0 0 1 0 0 0 1
LOC126806427, TTN 0 0 0 0 1 0 1
LOC126806428, TTN 0 0 1 0 0 0 1
LOC126806429, TTN 0 0 1 0 0 0 1
LOC126806431, TTN 0 0 0 1 0 0 1
LOC126806433, TTN 0 0 1 0 0 0 1
MADD, MYBPC3 0 0 1 0 0 0 1
MAP2K2 0 0 0 0 1 0 1
MASP1 0 0 1 0 0 0 1
MYBPHL 0 0 1 0 0 0 1
MYH7B 0 0 1 0 0 0 1
NIPBL 0 0 0 1 0 0 1
NKX2-5 0 0 1 0 0 0 1
PCCB 0 0 1 0 0 0 1
PDLIM3 0 0 0 0 1 0 1
RNF123 0 0 1 0 0 0 1
RNF125 0 0 1 0 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
TBX1 1 0 0 0 0 0 1
UQCRC1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 937 344 5691 3864 310 0 11145
All of Us Research Program, National Institutes of Health 92 67 1366 779 52 0 2356
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 232 179 41 0 0 0 452
ClinGen Cardiomyopathy Variant Curation Expert Panel 30 28 60 9 49 0 176
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
Genetics and Genomics Program, Sidra Medicine 4 6 60 31 0 0 101
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics 15 9 63 1 6 0 94
Cohesion Phenomics 0 0 0 14 68 0 82
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 14 9 29 3 1 0 56
Molecular Genetics, Royal Melbourne Hospital 5 8 22 2 0 0 37
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 4 1 12 6 0 0 23
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 12 2 6 0 21
Clinical Genetics Laboratory, Skane University Hospital Lund 4 4 9 0 0 0 17
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 2 3 9 2 0 0 16
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 11 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 6 0 0 0 11
Lildballe Lab, Aarhus University Hospital 3 4 4 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 9 1 0 0 11
Genetics and Molecular Pathology, SA Pathology 5 1 4 0 0 0 10
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 7 0 0 0 0 10
Institute of Human Genetics, University of Wuerzburg 1 5 4 0 0 0 10
Loeys Lab, Universiteit Antwerpen 2 0 5 0 0 0 7
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 2 5 0 0 0 7
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 6 0 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 2 1 0 0 0 6
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 4 0 0 0 0 6
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
Genetic Medico-Diagnostic Laboratory Genica 2 0 2 0 0 0 4
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 1 0 2 1 0 0 4
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 0 2 2 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 1 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Genotypic Technology Pvt Ltd 0 0 3 0 0 0 3
Molecular Cardiogenetic Lab, Hospices Civils de Lyon 3 0 0 0 0 0 3
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 2 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 2
Genomics, Clalit Research Institute, Clalit Health Care 1 1 0 0 0 0 2
Health in Code S.L. 0 2 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 1
Ingles Laboratory, Garvan Institute Of Medical Research 0 0 0 0 1 0 1
Institute of Human Genetics, Medical University Innsbruck 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Molecular Genetics Lab, DMCH Ludhiana, Dayanand Medical College & Hospital (DMCH) 0 0 1 0 0 0 1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 1 0 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.