ClinVar Miner

Variants studied for Familial hypertrophic cardiomyopathy 4

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
67 40 28 20 28 2 165

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYBPC3 65 40 26 20 28 2 161
BRAF 1 0 0 0 0 0 1
LOC106029312, NCF1 1 0 0 0 0 0 1
RYR2 0 0 1 0 0 0 1
TCAP 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 21 0 9 8 24 0 62
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 15 3 10 10 15 0 53
Genome Diagnostics Laboratory,University Medical Center Utrecht 14 1 4 9 18 0 46
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 29 1 0 0 0 30
OMIM 25 0 0 0 0 0 25
Center of Genomic medicine, Geneva,University Hospital of Geneva 12 1 0 0 0 0 13
Center for Medical Genetics Ghent,University of Ghent 5 4 0 0 0 0 9
Phosphorus, Inc. 2 1 2 0 0 0 5
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 3 1 0 0 0 0 4
Illumina Clinical Services Laboratory,Illumina 2 0 2 0 0 0 4
HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 4
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 3 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 2 0 0 0 3
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Human Genetics,University of Goettingen 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 1 0 0 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1

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