ClinVar Miner

Variants in gene CACNA1S

Minimum submission review status: Collection method:
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Gene type:
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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 drug response risk factor not provided total
12 6 226 193 83 2 4 1 454

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility type 5 7 1 100 60 57 0 0 0 225
not specified 0 0 15 103 57 0 0 0 161
Hypokalemic periodic paralysis 0 0 61 75 21 0 0 0 157
Malignant hyperthermia susceptibility 0 0 62 76 20 0 0 0 156
not provided 3 4 68 4 18 0 0 1 98
Hypokalemic periodic paralysis 1 8 0 3 0 0 0 0 0 11
Malignant hyperthermia 0 0 5 1 1 0 0 0 7
Malignant hyperthermia susceptibility type 5 0 0 5 0 0 0 1 0 6
Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility type 5; Thyrotoxic periodic paralysis 0 0 4 0 0 0 0 0 4
Thyrotoxic periodic paralysis 0 0 0 0 0 0 3 0 3
desflurane response - Toxicity/ADR 0 0 0 0 0 2 0 0 2
enflurane response - Toxicity/ADR 0 0 0 0 0 2 0 0 2
halothane response - Toxicity/ADR 0 0 0 0 0 2 0 0 2
isoflurane response - Toxicity/ADR 0 0 0 0 0 2 0 0 2
methoxyflurane response - Toxicity/ADR 0 0 0 0 0 2 0 0 2
sevoflurane response - Toxicity/ADR 0 0 0 0 0 2 0 0 2
succinylcholine response - Toxicity/ADR 0 0 0 0 0 2 0 0 2
Malignant hyperthermia, susceptibility to, 1 0 0 1 0 0 0 0 0 1
Rhabdomyolysis 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Invitae 7 1 100 60 52 0 0 0 220
GeneDx 2 4 40 81 41 0 0 0 168
Illumina Clinical Services Laboratory,Illumina 0 0 60 76 21 0 0 0 157
PreventionGenetics 0 0 0 26 46 0 0 0 72
Athena Diagnostics Inc 2 0 8 2 34 0 0 0 46
Gharavi Laboratory,Columbia University 0 0 23 0 0 0 0 0 23
CSER_CC_NCGL; University of Washington Medical Center 0 0 8 2 0 0 0 0 10
OMIM 5 0 0 0 0 0 4 0 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 7 0 0 0 0 0 7
Integrated Genetics/Laboratory Corporation of America 0 0 2 0 5 0 0 0 7
GeneReviews 7 0 0 0 0 0 0 0 7
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 5 0 0 0 0 0 5
Fulgent Genetics 0 0 4 0 0 0 0 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 1 0 1 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 3 0 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 1 0 0 0 2
PharmGKB 0 0 0 0 0 2 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 0 1

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