ClinVar Miner

Variants studied for Hypertrophic cardiomyopathy 2

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
14 26 127 69 33 40 301

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TNNT2 14 26 126 62 27 0 247
TTN 0 0 1 3 1 8 13
VCL 0 0 0 0 0 7 7
LDB3 0 0 0 0 0 5 5
MYH6 0 0 0 0 0 5 5
ABCC9 0 0 0 0 1 2 3
ABCC9, KCNJ8 0 0 0 0 0 3 3
ANKRD1 0 0 0 0 2 1 3
MYH7 0 0 0 0 0 3 3
NEXN 0 0 0 0 0 3 3
DSP 0 0 0 1 0 1 2
JPH2 0 0 0 1 0 1 2
ACTC1, GJD2-DT 0 0 0 0 1 0 1
GATAD1 0 0 0 1 0 0 1
LMNA, LOC129931597 0 0 0 1 0 0 1
MYPN 0 0 0 0 0 1 1
NEBL 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 7 18 100 61 26 0 212
Institute of Human Genetics, University of Wuerzburg 0 0 1 7 7 40 55
Illumina Laboratory Services, Illumina 0 0 21 2 0 0 23
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 7 0 0 0 11
OMIM 5 0 0 0 0 0 5
Mendelics 0 0 2 0 3 0 5
3billion, Medical Genetics 2 2 1 0 0 0 5
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 1 3 0 0 0 4
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 3 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 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 1 0 0 0 0 1
Cardiology unit, Meyer University Hospital 0 1 0 0 0 0 1
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 0 0 1 0 0 0 1

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