ClinVar Miner

Variants in gene SNTA1

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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 total
2 3 253 192 40 418

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Long QT syndrome 0 1 149 101 18 267
Cardiovascular phenotype 0 0 109 95 11 215
not provided 0 2 67 31 19 115
Long QT syndrome 12 2 0 66 12 12 89
not specified 0 0 11 23 17 48
Congenital long QT syndrome 0 0 14 8 0 21
SNTA1-related condition 0 0 0 8 1 9
Long QT syndrome 1 0 0 1 0 1 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
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
Primary dilated cardiomyopathy 0 0 0 0 1 1
Sick sinus syndrome 0 0 1 0 0 1
Ventricular fibrillation 0 0 1 0 0 1
Ventricular fibrillation, paroxysmal familial, type 1 0 0 1 0 0 1
Ventricular tachycardia 0 0 0 1 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 149 105 17 271
Ambry Genetics 0 0 109 95 11 215
GeneDx 0 0 50 40 27 117
Illumina Laboratory Services, Illumina 0 0 31 14 10 45
Fulgent Genetics, Fulgent Genetics 0 0 34 2 1 37
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 11 5 8 24
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 3 6 14
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 9 1 1 11
PreventionGenetics, part of Exact Sciences 0 0 0 9 1 10
Clinical Genetics, Academic Medical Center 0 0 1 3 5 9
AiLife Diagnostics, AiLife Diagnostics 0 2 6 0 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 2 4 6
Blueprint Genetics 0 0 4 1 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 2 1 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 4 0 0 4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 0 1 2 3
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 1 0 1 1 3
Dept of Medical Biology, Uskudar University 0 0 2 0 1 3
OMIM 2 0 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 2
Mendelics 0 0 1 0 1 2
CeGaT Center for Human Genetics Tuebingen 0 0 1 1 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 2
Baylor Genetics 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 0 1 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1

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