ClinVar Miner

Variants in gene SNTA1

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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 2 113 73 23 186

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Long QT syndrome 0 1 54 23 14 83
not provided 0 1 58 10 7 76
not specified 0 0 11 32 13 55
Cardiovascular phenotype 0 0 18 16 5 39
Romano-Ward syndrome 0 0 23 10 0 33
Long QT syndrome 12 2 0 7 4 0 12
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 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
Wolff-Parkinson-White pattern 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 0 1 46 40 13 100
Invitae 0 0 33 13 14 60
Ambry Genetics 0 0 18 16 5 39
Illumina Clinical Services Laboratory,Illumina 0 0 23 11 0 34
Integrated Genetics/Laboratory Corporation of America 0 0 10 1 5 16
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 10 1 1 12
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 0 1 6
Blueprint Genetics, 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
OMIM 2 0 0 0 0 2
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 2 0 0 2
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
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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