ClinVar Miner

Variants studied for dilated cardiomyopathy 1I

Included ClinVar conditions (3):
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 not provided total
8 13 78 17 8 3 119

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DES 7 13 75 16 8 3 114
DES, DES-LCR 0 0 2 1 0 0 3
DES, LOC110121267, LOC126806518, SPEG 0 0 1 0 0 0 1
MYBPC3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 2 4 48 4 1 0 59
Illumina Laboratory Services, Illumina 0 0 25 13 6 0 44
New York Genome Center 0 0 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 1 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
OMIM 2 0 0 0 0 0 2
Baylor Genetics 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
KTest Genetics, KTest 0 2 0 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 2 0 0 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Savagenome Genetic Health Clinic, Tarbiat Modares University 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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