ClinVar Miner

Variants studied for dilated cardiomyopathy 1A

Included ClinVar conditions (11):
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 likely risk allele uncertain risk allele not provided total
52 57 177 37 7 2 2 10 319

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
LMNA 36 30 124 29 4 2 2 9 215
TTN 10 8 0 0 0 0 0 0 18
LMNA, LOC126805877 2 4 9 2 0 0 0 1 16
DSP 1 1 3 2 0 0 0 0 7
LMNA, LOC129931597 1 2 3 2 1 0 0 0 7
MYBPC3 0 1 4 0 1 0 0 0 6
RBM20 1 0 4 0 0 0 0 0 5
NEXN 0 0 4 0 0 0 0 0 4
BAG3 0 2 0 0 1 0 0 0 3
DMD 0 0 2 1 0 0 0 0 3
LDB3 0 0 3 0 0 0 0 0 3
MYPN 0 0 3 0 0 0 0 0 3
ACTC1, GJD2-DT 0 0 2 0 0 0 0 0 2
DSC2 0 1 1 0 0 0 0 0 2
MYH6 0 0 2 0 0 0 0 0 2
ABCC9 0 0 1 0 0 0 0 0 1
ACTN2 0 0 1 0 0 0 0 0 1
ANKRD1 0 0 1 0 0 0 0 0 1
DES 0 0 1 0 0 0 0 0 1
DSG2 0 0 1 0 0 0 0 0 1
EMD 0 0 1 0 0 0 0 0 1
HAND2 1 0 0 0 0 0 0 0 1
LOC110121269, SCN5A 0 0 1 0 0 0 0 0 1
LOC126806421, TTN 0 0 1 0 0 0 0 0 1
LOC126861897, MHRT, MYH7 0 0 1 0 0 0 0 0 1
LPL 0 1 0 0 0 0 0 0 1
MYH7 0 0 1 0 0 0 0 0 1
NFATC2 0 1 0 0 0 0 0 0 1
PKP2 0 0 0 1 0 0 0 0 1
RAPGEF5 0 1 0 0 0 0 0 0 1
SCN5A 0 0 1 0 0 0 0 0 1
SEMA3E 0 1 0 0 0 0 0 0 1
SGCD 0 0 1 0 0 0 0 0 1
SLC22A5 0 1 0 0 0 0 0 0 1
SYNE1 0 1 0 0 0 0 0 0 1
TAFAZZIN 0 0 1 0 0 0 0 0 1
TNNI3 0 1 0 0 0 0 0 0 1
UNC45B 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
Fulgent Genetics, Fulgent Genetics 5 3 89 21 2 0 0 0 120
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 12 6 40 4 1 0 0 0 63
Illumina Laboratory Services, Illumina 1 1 31 9 4 0 0 0 46
Cytogenetics- Mohapatra Lab, Banaras Hindu University 0 13 0 0 0 0 0 0 13
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 4 6 1 0 0 0 0 0 11
OMIM 10 0 0 0 0 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 6 0 0 0 0 0 9
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 1 3 0 2 2 0 8
Genetic Services Laboratory, University of Chicago 3 3 0 0 0 0 0 0 6
GeneReviews 0 0 0 0 0 0 0 6 6
Institute of Human Genetics, University of Leipzig Medical Center 2 0 4 0 0 0 0 0 6
New York Genome Center 2 1 3 0 0 0 0 0 6
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 2 3 1 0 0 0 0 0 6
Baylor Genetics 0 1 4 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 0 4 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 1 0 0 0 3
Mendelics 1 1 1 0 0 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 3 0 0 0 0 0 0 3
3billion 1 2 0 0 0 0 0 0 3
Athena Diagnostics Inc 1 1 0 0 0 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 1 0 0 0 0 0 0 2
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 1 0 1 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 2 0 0 0 0 0 2
Clinical Genetics Laboratory, Region Ostergotland 1 1 0 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 0 0 2
KTest Genetics, KTest 1 1 0 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 0 1
Andelfinger Lab, Centre de Recherche, CHU Sainte Justine 1 0 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 0 0 1
Cardiovascular Research Laboratory, Shanghai Chest Hospital, Shanghai Jiao Tong University 1 0 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 0 1
Cardiogenetic Laboratory, Instituto Murciano de Investigación Biosanitaria 0 1 0 0 0 0 0 0 1
Cardiovascular Medicine, National Cerebral Cardiovascular Center 1 0 0 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 1 1
Suma Genomics 0 1 0 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 0 0 1

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