ClinVar Miner

Variants studied for dilated cardiomyopathy 1A

Included ClinVar conditions (16):
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
62 69 220 36 6 2 2 10 375

Gene and significance breakdown #

Total genes and gene combinations: 37
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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 45 42 170 30 4 2 2 9 277
LMNA, LOC126805877 2 6 11 2 0 0 0 1 19
TTN 9 7 0 0 0 0 0 0 16
LMNA, LOC129931597 2 3 7 2 1 0 0 0 13
MYBPC3 0 1 3 0 1 0 0 0 5
NEXN 0 0 4 0 0 0 0 0 4
RBM20 1 0 3 0 0 0 0 0 4
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
BAG3 0 1 0 0 0 0 0 0 1
CHRM2, LOC349160 0 0 1 0 0 0 0 0 1
DES 0 0 1 0 0 0 0 0 1
DMD 0 0 0 1 0 0 0 0 1
DSP 1 0 0 0 0 0 0 0 1
FLNC 1 0 0 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
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: 59
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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 11 12 138 22 2 0 0 0 185
Illumina Laboratory Services, Illumina 1 1 31 9 4 0 0 0 46
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 10 3 29 2 0 0 0 0 44
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 3 7 0 0 0 0 0 17
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
Clinical Genomics Laboratory, Stanford Medicine 0 0 4 0 0 0 0 0 4
Institute of Immunology and Genetics Kaiserslautern 2 0 2 0 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 1 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 3 0 0 0 0 0 0 3
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 1 1 0 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 2 0 0 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 0 0 3
3billion 1 2 0 0 0 0 0 0 3
Athena Diagnostics 1 1 0 0 0 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 0 0 0 2
Mendelics 0 1 1 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 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
Institute of Human Genetics, University of Wuerzburg 0 0 2 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
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 1 0 0 0 0 0 0 2
KTest Genetics, KTest 1 1 0 0 0 0 0 0 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 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
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
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 0 0 0 1
Department of Cardiovascular Medicine, The University of Tokyo, Graduate School of Medicine 0 1 0 0 0 0 0 0 1

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