ClinVar Miner

Variants studied for Malignant hyperthermia, susceptibility to, 5

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
8 18 1200 627 101 1888

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CACNA1S 8 18 1200 627 101 1888

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
All of Us Research Program, National Institutes of Health 1 1 805 319 37 1163
Color Diagnostics, LLC DBA Color Health 1 1 578 387 62 1029
Genome-Nilou Lab 4 14 115 150 72 355
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 5 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 5 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 2 2 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 2 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 1 2
Variantyx, Inc. 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
New York Genome Center 1 0 0 0 0 1
OMIM 1 0 0 0 0 1

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