ClinVar Miner

Variants studied for Cardiomyopathy, familial hypertrophic 27

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 total
22 23 51 12 14 121

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ALPK3 22 22 49 11 14 117
ALPK3, LOC111718493 0 1 2 1 0 4

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 11 12 14 39
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 2 16 0 0 25
Revvity Omics, Revvity 1 1 12 0 0 14
OMIM 8 0 0 0 0 8
Clinical Genomics Laboratory, Stanford Medicine 0 1 7 0 0 8
3billion, Medical Genetics 3 5 0 0 0 8
Baylor Genetics 3 0 4 0 0 7
Fulgent Genetics, Fulgent Genetics 1 0 3 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 1 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 3 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 0 2 0 0 0 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics 0 1 0 0 0 1

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