ClinVar Miner

Variants studied for myocardial disorder

Included ClinVar conditions (32):
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 drug response risk factor not provided total
43 41 714 95 105 2 5 9 955

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
SCN5A 24 25 311 44 43 0 0 8 406
MYH6 0 0 152 30 5 0 1 0 188
HCN4 8 0 109 9 39 0 0 0 163
LOC110121269, SCN5A 1 1 42 4 7 0 0 1 49
FPGT-TNNI3K, TNNI3K 3 1 27 3 7 0 0 0 41
LOC114827851, MYH6 0 0 29 2 0 0 0 0 31
LOC126861896, MYH6 0 0 21 3 2 0 0 0 26
FPGT-TNNI3K, LRRC53, TNNI3K 1 2 9 0 0 0 0 0 11
HCN4, LOC105370890, LOC126862173 0 0 7 0 1 0 0 0 8
IDH2 0 0 0 0 0 0 4 0 4
LMNA 0 3 0 0 0 0 0 0 3
BAG3 1 1 0 0 0 0 0 0 2
CYP2C19 0 0 0 0 0 2 0 0 2
DSP 0 2 0 0 0 0 0 0 2
HRC, TRPM4 0 0 2 0 0 0 0 0 2
SCN1B 2 0 0 0 0 0 0 0 2
ABCC9 0 0 0 0 1 0 0 0 1
ABCD1 0 1 0 0 0 0 0 0 1
AMER1 0 0 1 0 0 0 0 0 1
CACNB2 0 0 1 0 0 0 0 0 1
CLCN1 1 0 0 0 0 0 0 0 1
CORO1A 0 1 0 0 0 0 0 0 1
GNB2 1 0 0 0 0 0 0 0 1
HCN4, LOC105370890 0 0 1 0 0 0 0 0 1
MECP2 0 1 0 0 0 0 0 0 1
MYH7 0 1 0 0 0 0 0 0 1
SNTA1 0 0 1 0 0 0 0 0 1
TNNI3 1 0 0 0 0 0 0 0 1
TNNT2 0 1 0 0 0 0 0 0 1
TRPM4 0 0 1 0 0 0 0 0 1
TTN 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Fulgent Genetics, Fulgent Genetics 12 14 439 52 13 0 0 0 530
Illumina Laboratory Services, Illumina 0 0 215 42 86 0 0 0 301
Genome-Nilou Lab 0 1 27 3 7 0 0 0 38
OMIM 24 0 0 0 0 0 1 0 25
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 20 0 0 0 0 0 20
Juno Genomics, Hangzhou Juno Genomics, Inc 1 7 5 0 0 0 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 7 0 0 0 0 0 12
Klaassen Lab, Charite University Medicine Berlin 2 7 0 0 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 5 0 0 0 0 0 8
New York Genome Center 0 0 8 0 0 0 0 0 8
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 0 7 7
Blueprint Genetics 0 2 2 0 0 0 0 0 4
Clinical Pathology, Faculty of Medicine, Tanta University 0 0 0 0 0 0 4 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 1 0 1 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 0 0 2
Mendelics 0 0 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 0 0 2
Cardiology Department, The First Affiliated Hospital of Nanjing Medical University 0 0 0 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 0 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 0 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 0 0 1
Phosphorus, Inc. 0 0 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 0 0 1
DASA 1 0 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 0 0 1
Department of Legal Medicine, University of Toyama 0 1 0 0 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 0 0 0 1

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