ClinVar Miner

Variants studied for Malignant hyperthermia, susceptibility to, 1

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
51 83 3376 1602 160 5054

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RYR1 50 83 3264 1556 152 4894
LOC126862902, RYR1 1 0 75 28 6 105
LOC129391106, RYR1 0 0 21 16 0 35
LOC130064357, RYR1 0 0 8 0 1 9
CACNA1S 0 0 4 0 0 4
CACNG1 0 0 1 0 0 1
HSP90AA1 0 0 1 0 0 1
LOC130064350, RYR1 0 0 1 0 0 1
PYGM 0 0 0 1 0 1
SLC8A3 0 0 1 0 0 1
SYPL2 0 0 0 0 1 1
TRPC1 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
All of Us Research Program, National Institutes of Health 16 21 2295 936 50 3318
Color Diagnostics, LLC DBA Color Health 14 21 1442 1044 135 2656
Illumina Laboratory Services, Illumina 1 1 263 58 86 409
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 30 50 112 8 15 215
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 3 1 60 6 8 78
Institute of Human Genetics, University of Leipzig Medical Center 9 7 12 1 1 30
Mendelics 2 1 9 0 13 25
CSER _CC_NCGL, University of Washington 4 1 11 7 0 23
Molecular Genetics, Royal Melbourne Hospital 5 1 15 2 0 23
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 4 5 13 0 0 22
Baylor Genetics 2 4 12 0 0 18
OMIM 15 0 0 0 0 15
Variantyx, Inc. 6 9 0 0 0 15
MGZ Medical Genetics Center 2 3 8 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 3 3 0 0 13
Leeds Institute of Medical Research, University of Leeds 0 0 8 2 1 11
Juno Genomics, Hangzhou Juno Genomics, Inc 4 5 0 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 2 1 0 0 6
Clinical Genomics Laboratory, Washington University in St. Louis 2 2 1 0 0 5
Genetics and Molecular Pathology, SA Pathology 2 0 3 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 5 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 1 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 4
Institute of Human Genetics Munich, TUM University Hospital 3 1 0 0 0 4
deCODE genetics, Amgen 1 3 0 0 0 4
Arcensus 0 2 1 0 0 3
Department of Human Genetics, Hannover Medical School 2 0 1 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 2 0 0 0 3
PreventionGenetics, part of Exact Sciences 0 3 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 2
OLLIN Analises Genomicas, OLLIN 0 1 1 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 1 0 0 2
3billion 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 1 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1

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