ClinVar Miner

Variants studied for hypertrophic cardiomyopathy 6

Included ClinVar conditions (2):
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 total
9 0 89 15 9 122

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic uncertain significance likely benign benign total
PRKAG2 9 85 15 9 118
LOC129999660, PRKAG2 0 4 0 0 4

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 59 12 8 79
Fulgent Genetics, Fulgent Genetics 0 20 3 0 23
OMIM 9 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 3 0 0 3
New York Genome Center 0 2 0 0 2
Baylor Genetics 0 1 0 0 1
MGZ Medical Genetics Center 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 1
Blueprint Genetics 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 1
Genome-Nilou Lab 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 1

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