ClinVar Miner

Variants in gene CACNA1S

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 drug response risk factor not provided total
20 12 278 318 140 2 4 1 681

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
not provided 3 6 87 191 114 0 0 1 387
Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility type 5 16 4 148 21 13 0 0 0 202
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
Hypokalemic periodic paralysis 1 8 1 5 1 0 0 0 0 15
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, susceptibility to, 1 0 0 4 0 0 0 0 0 4
Thyrotoxic periodic paralysis, susceptibility to, 1 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: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Invitae 16 4 148 178 59 0 0 0 405
GeneDx 2 4 40 104 93 0 0 0 243
Illumina Clinical Services Laboratory,Illumina 0 0 60 76 21 0 0 0 157
PreventionGenetics,PreventionGenetics 0 0 0 26 46 0 0 0 72
Athena Diagnostics Inc 2 0 9 2 41 0 0 0 54
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 24 12 0 0 0 0 38
Gharavi Laboratory,Columbia University 0 0 23 0 0 0 0 0 23
CSER _CC_NCGL, University of Washington 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,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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 3 0 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 1 0 0 0 2
Mendelics 0 1 0 1 0 0 0 0 2
PharmGKB 0 0 0 0 0 2 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 0 0 0 2
Baylor Genetics 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, FRIGE's Institute of Human Genetics 1 0 0 0 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 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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