ClinVar Miner

Variants in gene SLC37A4

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
58 48 320 204 23 32 621

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Glucose-6-phosphate transport defect 54 43 271 190 13 0 549
not provided 5 7 24 9 3 32 73
Glycogen storage disease, type I 0 0 39 1 8 0 48
not specified 0 0 0 14 11 0 23
Phosphate transport defect 6 1 0 0 0 0 7
Phosphate transport defect; Glucose-6-phosphate transport defect 0 0 2 0 0 0 2
Glycogen storage disease 1 0 0 0 0 0 1
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 0 0 0 0 1 0 1
Hepatomegaly; Immunodeficiency; Recurrent respiratory infections; Splenomegaly; Neutropenia; Leukopenia 0 1 0 0 0 0 1
Inborn genetic diseases 1 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 not provided total
Counsyl 0 27 189 130 0 0 346
Invitae 39 7 81 69 12 0 208
Illumina Clinical Services Laboratory,Illumina 0 0 39 1 8 0 48
Natera, Inc. 4 0 24 5 7 0 40
GeneDx 3 2 11 12 10 0 38
UniProtKB/Swiss-Prot 0 0 0 0 0 32 32
Integrated Genetics/Laboratory Corporation of America 11 5 0 1 2 0 19
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 12 1 3 0 17
OMIM 16 0 0 0 0 0 16
PreventionGenetics, PreventionGenetics 0 0 0 0 8 0 8
Centre for Human Genetics 2 1 2 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 2 0 0 0 5
Mendelics 1 2 0 0 1 0 4
Centogene AG - the Rare Disease Company 2 1 0 0 0 0 3
GeneReviews 3 0 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Myriad Women's Health, Inc. 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Ambry Genetics 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
Nilou-Genome Lab 0 0 0 1 0 0 1

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