ClinVar Miner

Variants in gene SLC37A4

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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 not provided total
115 89 439 400 44 34 998

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Glucose-6-phosphate transport defect 112 79 383 374 21 3 909
not provided 8 8 35 19 28 33 116
Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 5 7 40 9 0 0 61
Glycogen storage disease, type I 0 0 37 1 7 0 45
Inborn genetic diseases 1 0 33 8 0 0 42
not specified 0 0 6 13 12 0 29
SLC37A4-related condition 1 1 8 14 2 0 26
Phosphate transport defect 6 1 4 0 6 0 17
Phosphate transport defect; Glucose-6-phosphate transport defect 0 0 3 0 0 0 3
Congenital disorder of glycosylation, type IIw 2 0 0 0 0 0 2
Congenital disorder of glycosylation 0 1 0 0 0 0 1
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
Glycogen storage disease type 1 due to SLC37A4 mutation 1 0 0 0 0 0 1
Hepatomegaly; Immunodeficiency; Recurrent respiratory infections; Splenomegaly; Neutropenia; Leukopenia 0 1 0 0 0 0 1
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 91 18 211 292 21 0 633
Counsyl 0 27 187 130 0 0 344
Natera, Inc. 11 1 58 7 9 0 86
GeneDx 4 2 18 23 30 0 77
Baylor Genetics 36 30 2 0 0 0 68
Fulgent Genetics, Fulgent Genetics 5 7 39 8 0 0 59
Illumina Laboratory Services, Illumina 0 0 37 1 7 0 45
Ambry Genetics 1 0 33 8 0 0 42
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 20 10 6 1 3 0 40
PreventionGenetics, part of Exact Sciences 1 1 8 14 10 0 34
UniProtKB/Swiss-Prot 0 0 0 0 0 32 32
Eurofins Ntd Llc (ga) 1 0 12 1 3 0 17
CeGaT Center for Human Genetics Tuebingen 4 3 4 3 3 0 17
OMIM 16 0 0 0 0 0 16
Genome-Nilou Lab 0 0 4 1 6 0 11
Revvity Omics, Revvity 4 0 5 0 0 0 9
Mendelics 3 3 0 0 1 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 5 0 5
Centre for Human Genetics 2 1 2 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 1 0 0 4
Myriad Genetics, Inc. 2 2 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 3
Centogene AG - the Rare Disease Company 2 1 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 2 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 1 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
3billion 1 0 1 0 0 0 2
DASA 2 0 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human 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
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1

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