ClinVar Miner

Variants in gene SNTA1

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 total
2 2 141 87 29 225

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 1 61 24 7 91
Long QT syndrome 0 1 52 20 15 87
Long QT syndrome 12 2 0 47 12 12 69
not specified 0 0 9 32 13 54
Cardiovascular phenotype 0 0 15 18 6 39
Romano-Ward syndrome 0 0 23 10 0 33
Long QT syndrome 1 0 0 2 0 0 2
Atrial fibrillation; Long QT syndrome 0 1 0 0 0 1
Becker muscular dystrophy 0 0 1 0 0 1
Brugada syndrome 0 0 1 0 0 1
Cardiac arrhythmia 0 0 1 0 0 1
Dilated cardiomyopathy 0 0 0 0 1 1
Dilated cardiomyopathy 3B 0 0 1 0 0 1
Duchenne muscular dystrophy 0 0 1 0 0 1
Long QT syndrome 2 0 0 0 1 0 1
Paroxysmal familial ventricular fibrillation 1 0 0 1 0 0 1
Sick sinus syndrome 0 0 1 0 0 1
Ventricular fibrillation 0 0 1 0 0 1
Ventricular tachycardia 0 0 0 1 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 1
mitochondrial 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 0 1 46 40 13 100
Invitae 0 0 50 33 15 98
Illumina Clinical Services Laboratory,Illumina 0 0 44 17 12 61
Ambry Genetics 0 0 15 18 6 39
Integrated Genetics/Laboratory Corporation of America 0 0 10 1 5 16
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 10 1 1 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 1 2 9
Blueprint Genetics 0 0 4 1 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 1 0 5
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 4 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 0 3
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 1 0 1 1 3
OMIM 2 0 0 0 0 2
Mendelics 0 0 2 0 0 2
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 2 0 0 2
PreventionGenetics,PreventionGenetics 0 0 0 1 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1
Center for Human Genetics,University of Leuven 0 0 0 1 0 1
Medical Research Institute,Tokyo Medical and Dental University 0 1 0 0 0 1
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 1
Phosphorus, Inc. 0 0 1 0 0 1

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