ClinVar Miner

Variants studied for Hypertrophic cardiomyopathy 7

Coded as:
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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 risk factor total
18 13 30 6 8 1 67

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
TNNI3 18 13 26 5 2 1 56
DNAAF3, TNNI3 0 0 1 1 5 0 7
DNAAF3, LOC130065090, TNNI3 0 0 1 0 0 0 1
DNAAF3, TNNI3, TNNT1 0 0 0 0 1 0 1
FHOD3 0 0 1 0 0 0 1
TNNT2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Laboratory Services, Illumina 2 0 15 6 8 0 31
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 2 3 0 0 0 10
3billion 4 4 2 0 0 0 10
OMIM 7 0 0 0 0 1 8
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 2 1 3 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 2 0 0 0 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 2 0 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 0 1

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