ClinVar Miner

Variants studied for malignant hyperthermia, susceptibility to, 1

Included ClinVar conditions (11):
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 not provided total
62 124 2835 1048 152 15 11 4023

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 not provided total
RYR1 60 122 2750 1017 145 14 11 3901
LOC126862902, RYR1 2 1 55 19 6 1 0 79
LOC129391106, RYR1 0 0 17 12 0 0 0 28
LOC130064357, RYR1 0 0 11 0 1 0 0 12
CACNA1S 0 1 1 0 0 0 0 2
LOC130064350, RYR1 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
All of Us Research Program, National Institutes of Health 16 21 2295 936 50 0 0 3318
Fulgent Genetics, Fulgent Genetics 26 51 412 38 24 0 0 551
Illumina Laboratory Services, Illumina 0 0 265 59 86 0 0 410
Color Diagnostics, LLC DBA Color Health 9 7 43 74 95 0 0 228
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 28 45 117 9 15 0 0 214
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 4 0 60 6 8 0 0 78
Mendelics 3 4 9 0 13 0 0 29
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 5 6 13 0 0 0 0 24
Institute of Human Genetics, University of Leipzig Medical Center 7 6 9 1 1 0 0 24
CSER _CC_NCGL, University of Washington 4 1 11 7 0 0 0 23
Molecular Genetics, Royal Melbourne Hospital 5 1 12 2 0 0 0 20
Baylor Genetics 2 4 12 0 0 0 0 18
OMIM 0 0 0 0 0 15 0 15
MGZ Medical Genetics Center 2 3 8 0 0 0 0 13
Juno Genomics, Hangzhou Juno Genomics, Inc 2 5 6 0 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 2 3 0 0 0 0 10
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 2 1 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 6 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 5 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 2 0 3 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 5 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 1 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 0 4
deCODE genetics, Amgen 1 3 0 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 0 3
Arcensus 0 2 1 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 1 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 2 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1

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