ClinVar Miner

Variants in gene SLC6A8

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 not provided total
56 18 105 207 60 10 400

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Creatine transporter deficiency 40 6 65 101 54 9 266
not specified 1 0 10 85 14 0 106
not provided 18 7 26 45 10 1 104
History of neurodevelopmental disorder 0 0 2 12 8 0 22
See cases 0 2 3 5 2 0 12
Creatine deficiency syndrome 1 0 0 5 3 1 0 9
Inborn genetic diseases 2 1 3 0 0 0 6
Intellectual disability 3 0 0 0 0 0 3
Malignant hyperthermia, susceptibility to, 1 1 0 0 0 0 0 1
Neurodevelopmental disorder 0 1 0 0 0 0 1
Seizures; Low-set ears; Abnormal facial shape; Intellectual disability 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 20 3 56 116 54 0 249
GeneDx 16 4 16 91 9 0 136
Ambry Genetics 2 1 5 12 8 0 28
CeGaT Praxis fuer Humangenetik Tuebingen 3 2 9 10 0 0 24
Genetic Services Laboratory, University of Chicago 2 0 3 7 5 0 17
Athena Diagnostics Inc 1 1 4 1 8 0 15
OMIM 10 0 0 0 0 0 10
Natera, Inc. 0 0 5 3 1 0 9
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 9 9
ISCA site 4 0 2 1 5 0 0 8
GeneReviews 4 0 0 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 2 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 0 2 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 2 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 1 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 1 0 2
Mendelics 1 0 1 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 1 1 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
ISCA site 1 0 0 2 0 0 0 2
ISCA site 2 0 0 0 0 2 0 2
Diagnostic Laboratory, Strasbourg University Hospital 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
St George's Genomics Service,St George's University Hospitals NHS FT 1 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 0 1
National Institute of Neuroscience,National Center of Neurology and Psychiatry 1 0 0 0 0 0 1

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