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 75 2217 843 150 17 3186

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 75 2156 818 143 16 3095
LOC126862902, RYR1 0 0 41 16 6 1 62
LOC129391106, RYR1 0 0 13 9 0 0 21
LOC130064357, RYR1 0 0 5 0 1 0 6
CACNA1S 0 0 1 0 0 0 1
LOC130064350, RYR1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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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 11 12 1839 750 48 0 2660
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
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
Institute of Human Genetics, University of Leipzig Medical Center 6 4 9 1 1 0 21
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 17 17
MGZ Medical Genetics Center 2 3 8 0 0 0 13
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
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
Laan Lab, Human Genetics Research Group, University of Tartu 2 0 0 0 0 0 2
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
HSP Biomedical Diagnostics Department, Hospital San Pedro 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
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
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

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