ClinVar Miner

Variants studied for Malignant hyperthermia, susceptibility to, 1

Coded as:
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 risk factor total
43 77 2665 1020 150 15 3808

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
RYR1 43 77 2588 992 143 14 3698
LOC126862902, RYR1 0 0 51 18 6 1 74
LOC129391106, RYR1 0 0 16 10 0 0 25
LOC130064357, RYR1 0 0 8 0 1 0 9
CACNA1S 0 0 1 0 0 0 1
LOC130064350, RYR1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
All of Us Research Program, National Institutes of Health 16 21 2295 936 50 0 3318
Illumina Laboratory Services, Illumina 0 0 265 59 86 0 410
Color Diagnostics, LLC DBA Color Health 9 7 43 74 95 0 228
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 28 45 117 9 15 0 214
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 4 0 60 6 8 0 78
Mendelics 3 4 9 0 13 0 29
Institute of Human Genetics, University of Leipzig Medical Center 7 6 9 1 1 0 24
CSER _CC_NCGL, University of Washington 4 1 11 7 0 0 23
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 4 5 13 0 0 0 22
Molecular Genetics, Royal Melbourne Hospital 5 1 12 2 0 0 20
Baylor Genetics 2 4 12 0 0 0 18
OMIM 0 0 0 0 0 15 15
MGZ Medical Genetics Center 2 3 8 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 2 3 0 0 0 10
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 2 1 0 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 5 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 2 0 3 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 2 3 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 1 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
deCODE genetics, Amgen 1 3 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Arcensus 0 2 1 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 1 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 0 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1

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