ClinVar Miner

Variants studied for Familial hypertrophic cardiomyopathy 4

Coded as:
Minimum submission review status: Collection method:
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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
69 44 120 37 37 2 265

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 67 44 118 37 37 2 261
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: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 2 0 76 21 6 0 105
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
Mendelics 0 0 31 2 11 0 44
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 1 0 0 0 0 6
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
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 0 2
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
Broad Institute Rare Disease Group,Broad Institute 0 2 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 0 0 0 0 0 1
Institute of Human Genetics,University of Goettingen 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1

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