ClinVar Miner

Variants studied for restrictive cardiomyopathy

Included ClinVar conditions (44):
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 other not provided total
796 861 2413 1972 303 4 16 5768

Gene and significance breakdown #

Total genes and gene combinations: 116
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
GAA 478 447 908 1080 87 3 9 2566
MYPN 32 18 612 384 56 0 0 1074
TNNT2 41 44 310 230 36 0 0 610
TTR 95 40 111 90 15 0 5 320
GJA5 1 0 111 53 4 0 0 168
IDUA 43 52 51 4 14 0 0 161
PDGFRA 0 0 87 15 52 0 0 152
GBA1, LOC106627981 57 44 18 5 2 0 1 114
TP53 2 65 0 0 0 0 0 66
TNNI3 16 8 31 11 3 0 0 63
IDUA, SLC26A1 9 7 12 32 4 1 0 62
GJA5, LOC122128420 0 0 44 15 1 0 0 60
ACTC1, GJD2-DT 0 0 41 1 0 0 0 41
ACTA1 0 0 19 4 4 0 0 27
BRAF 0 20 0 0 0 0 0 20
DNAAF3, TNNI3 0 0 1 16 5 0 0 19
LOC132089829, MYPN 1 0 6 11 2 0 0 19
LIG4 2 0 12 0 0 0 0 14
NRAS 0 14 0 0 0 0 0 14
HRAS, LRRC56 0 13 0 0 0 0 0 13
CCDC40, GAA 0 0 1 4 7 0 0 12
FLNC 2 3 1 0 0 0 1 7
LOC114827827, NPPA 1 0 4 2 0 0 0 7
GBA1 4 0 2 0 0 0 0 6
TTN 0 1 3 1 1 0 0 6
B2M 0 5 0 0 0 0 0 5
IDH1 0 5 0 0 0 0 0 5
KRAS 1 4 0 0 0 0 0 5
CCDC40, GAA, LOC130061897 0 0 1 3 0 0 0 4
CDK4 0 4 0 0 0 0 0 4
DSG2, TTR 0 0 4 0 0 0 0 4
KIF20A 2 1 1 0 0 0 0 4
PIK3CA 0 4 0 0 0 0 0 4
PTPN11 0 4 0 0 0 0 0 4
ACTA1, LOC122152321 0 0 1 0 2 0 0 3
DMD 0 0 2 0 1 0 0 3
DSP 0 0 2 1 0 0 0 3
FGFR3 3 1 0 0 0 0 0 3
IDH2 0 3 0 0 0 0 0 3
MYL3 0 0 2 1 0 0 0 3
TNNI3, TNNT1 0 0 0 3 0 0 0 3
DNAAF3, LOC130065090, TNNI3 0 0 1 1 0 0 0 2
DSG2 0 0 0 0 2 0 0 2
FAT1 0 2 0 0 0 0 0 2
GAA, LOC130061897 0 0 2 1 0 0 0 2
KMT2C 0 2 0 0 0 0 0 2
LOC126861898, MYH7 2 0 0 0 0 0 0 2
MHRT, MYH7 0 1 0 0 1 0 0 2
MYH6 0 0 1 0 1 0 0 2
MYH7 1 1 0 0 0 0 0 2
PRDM16 0 0 2 0 0 0 0 2
TAF1A 0 0 2 0 0 0 0 2
TET2 0 2 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 1
AKAP9 0 0 0 0 1 0 0 1
ARID4A 0 1 0 0 0 0 0 1
ATM 0 1 0 0 0 0 0 1
AURKA 0 1 0 0 0 0 0 1
BAP1 0 1 0 0 0 0 0 1
BARD1 0 1 0 0 0 0 0 1
BCORL1 0 1 0 0 0 0 0 1
BRCA2 0 1 0 0 0 0 0 1
CACNA1C 0 0 1 0 0 0 0 1
CALR3 0 0 1 0 0 0 0 1
CDKN2C 0 1 0 0 0 0 0 1
CRBN, TRNT1 0 1 0 0 0 0 0 1
CREBBP 0 1 0 0 0 0 0 1
CRYAB 1 0 0 0 0 0 0 1
CYLD 0 1 0 0 0 0 0 1
DIS3 0 1 0 0 0 0 0 1
DNAAF3, TNNI3, TNNT1 0 0 0 0 1 0 0 1
DNMT3A 0 1 0 0 0 0 0 1
DSC1, DSC2, DSG1, DSG2, DSG3, DSG4, TTR 0 0 1 0 0 0 0 1
EIF1AX 0 1 0 0 0 0 0 1
EIF4A3, GAA 0 0 1 0 0 0 0 1
ERF 0 1 0 0 0 0 0 1
FLT3 0 1 0 0 0 0 0 1
GBA1, THBS3 0 0 1 0 0 0 0 1
H1-4 0 1 0 0 0 0 0 1
H2AC16 0 1 0 0 0 0 0 1
H2AC17 0 1 0 0 0 0 0 1
H3C1 0 1 0 0 0 0 0 1
HDAC4 0 1 0 0 0 0 0 1
IL7R 0 1 0 0 0 0 0 1
KDM5C, LOC130068308 0 1 0 0 0 0 0 1
KMT2D 0 1 0 0 0 0 0 1
LATS1 0 1 0 0 0 0 0 1
LOC126806423, TTN 0 1 0 0 0 0 0 1
LOC126807246, PDLIM3 0 0 0 1 0 0 0 1
LOC130063979, PIK3R2 0 1 0 0 0 0 0 1
MGA 0 1 0 0 0 0 0 1
MSH6 0 1 0 0 0 0 0 1
MST1R 0 1 0 0 0 0 0 1
MT-ND1, MT-RNR1 1 0 0 0 0 0 0 1
MYBPC3 0 0 0 0 1 0 0 1
MYD88 0 1 0 0 0 0 0 1
MYOZ2 0 0 0 1 0 0 0 1
NCOR2 0 1 0 0 0 0 0 1
NF1 0 1 0 0 0 0 0 1
NKX2-1, SFTA3 0 1 0 0 0 0 0 1
P2RY8 0 1 0 0 0 0 0 1
PIK3R2 0 1 0 0 0 0 0 1
PITX1 0 1 0 0 0 0 0 1
PKP2 0 0 0 1 0 0 0 1
RECQL4 0 1 0 0 0 0 0 1
RXRA 0 1 0 0 0 0 0 1
SAMHD1 0 1 0 0 0 0 0 1
SGK1 0 1 0 0 0 0 0 1
SH2B3 0 1 0 0 0 0 0 1
SLC25A4 0 0 1 0 0 0 0 1
SYNE2 0 0 1 0 0 0 0 1
TCF3 0 1 0 0 0 0 0 1
TET3 0 1 0 0 0 0 0 1
TRAF5 0 1 0 0 0 0 0 1
TRPM4 0 0 0 1 0 0 0 1
YAP1 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 134
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 525 179 1777 1784 152 3 0 4420
Genome-Nilou Lab 9 43 293 103 92 0 0 540
Illumina Laboratory Services, Illumina 13 2 286 81 100 0 0 477
Fulgent Genetics, Fulgent Genetics 93 39 278 55 5 0 0 470
Natera, Inc. 67 8 277 45 20 0 0 417
Counsyl 43 167 93 41 2 1 0 347
Baylor Genetics 178 129 19 0 0 0 0 324
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 147 81 60 7 15 0 0 310
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 75 59 30 48 9 0 0 221
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 130 31 0 1 1 0 0 163
Database of Curated Mutations (DoCM) 0 139 0 0 0 0 0 139
OMIM 113 0 0 0 0 0 0 113
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 1 52 0 0 0 0 0 53
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 31 17 2 0 0 0 0 50
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 4 6 14 17 0 0 47
Myriad Genetics, Inc. 13 27 3 0 0 0 0 43
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 17 17 0 0 37
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 3 11 18 0 0 32
Mendelics 15 2 5 3 5 0 0 30
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 23 6 0 0 0 0 0 29
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 13 8 2 0 0 0 0 23
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 2 0 3 8 9 0 0 22
Neuberg Centre For Genomic Medicine, NCGM 7 7 6 0 0 0 0 20
3billion 13 3 2 1 0 0 0 19
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 2 8 0 1 0 0 17
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 4 2 6 3 0 0 0 15
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 2 5 8 0 0 15
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 13 0 0 0 0 15
MGZ Medical Genetics Center 6 3 5 0 0 0 0 14
Phosphorus, Inc. 0 0 2 0 12 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 2 11 0 0 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 1 3 0 0 0 0 12
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 3 3 0 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 3 7 0 0 0 0 11
Revvity Omics, Revvity 0 0 10 0 0 0 0 10
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 9 0 0 0 0 0 0 9
Johns Hopkins Genomics, Johns Hopkins University 5 2 2 0 0 0 0 9
Klaassen Lab, Charite University Medicine Berlin 0 2 7 0 0 0 0 9
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 6 1 1 0 1 0 0 9
Centogene AG - the Rare Disease Company 8 0 0 0 0 0 0 8
Knight Diagnostic Laboratories, Oregon Health and Sciences University 6 1 1 0 0 0 0 8
Blueprint Genetics 1 3 3 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 4 1 2 0 0 0 0 7
Molecular Therapies Laboratory, Murdoch University 7 0 0 0 0 0 0 7
DASA 6 1 0 0 0 0 0 7
GeneReviews 0 0 0 0 0 0 6 6
Division of Human Genetics, Children's Hospital of Philadelphia 3 1 2 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 6 6
NxGen MDx 0 6 0 0 0 0 0 6
New York Genome Center 1 0 5 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 6 6
Institute of Immunology and Genetics Kaiserslautern 2 1 3 0 0 0 0 6
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 5 0 0 0 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 0 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 1 0 0 0 0 4
Breda Genetics srl 2 1 1 0 0 0 0 4
Department of Medical Biology, Faculty of Medicine, Hacettepe University 2 2 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 0 0 0 0 0 0 4
Arcensus 3 1 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 0 3
Medical Genetic Department, Shiraz University Of Medical Science 3 0 0 0 0 0 0 3
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 2 0 1 0 0 0 0 3
Hadassah Hebrew University Medical Center 2 1 0 0 0 0 0 3
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 1 2 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 1 0 0 0 0 3
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 1 1 1 0 0 0 0 3
Medical Molecular Genetics Department, National Research Center 3 0 0 0 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 0 2 1 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 0 0 0 0 0 3
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 2 1 0 0 0 0 0 3
Pars Genome Lab 0 0 1 1 1 0 0 3
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 3 0 0 0 0 0 0 3
Lildballe Lab, Aarhus University Hospital 0 3 0 0 0 0 0 3
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 0 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 0 2
Laboratorio de Medicina Genomica, Hospital General de Culiacan 2 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 1 1 0 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 2
Amyloidosis Center, Boston University School of Medicine 2 0 0 0 0 0 0 2
Stephanie Ware Laboratory, Indiana University School of Medicine 2 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 1 0 0 0 0 2
Suma Genomics, Suma Genomics 0 0 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 1 0 0 0 0 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 2 0 0 0 0 2
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 2 0 0 0 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 1 1 0 0 0 0 0 2
Biotechnology, Institute of Science, Nirma University 1 1 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 1
Claritas Genomics 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Freeman-Sheldon Research Group, deGruyter-McKusick Institute of Health Sciences 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 0 0 1
ClinGen Cardiomyopathy Variant Curation Expert Panel 1 0 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 0 1
Genetic Medico-Diagnostic Laboratory Genica 1 0 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
University Health Network, Princess Margaret Cancer Centre 1 0 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 0 1
Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education 0 0 1 0 0 0 0 1
Ladle Lab, Johns Hopkins University 0 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 1
Genotypic Technology Pvt Ltd 0 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 0 1

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