ClinVar Miner

Variants in gene SLC37A4

Minimum submission review status: Collection method:
Minimum conflict level:
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
22 38 246 147 18 32 468

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Glucose-6-phosphate transport defect 20 33 203 132 8 0 392
not provided 3 4 22 1 2 32 60
Glycogen storage disease, type I 1 0 25 2 6 0 34
not specified 0 0 0 13 11 0 22
Phosphate transport defect 5 0 0 0 0 0 5
Hepatomegaly; Immunodeficiency; Recurrent respiratory infections; Splenomegaly; Neutropenia; Leukopenia 0 1 0 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 2 27 189 130 0 0 348
GeneDx 2 2 11 12 10 0 37
Illumina Clinical Services Laboratory,Illumina 0 0 25 2 6 0 33
Invitae 5 2 14 3 8 0 32
UniProtKB/Swiss-Prot 0 0 0 0 0 32 32
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 12 1 3 0 17
OMIM 16 0 0 0 0 0 16
Integrated Genetics/Laboratory Corporation of America 4 3 0 0 2 0 9
PreventionGenetics 0 0 0 0 8 0 8
GeneReviews 3 0 0 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 1 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Ambry Genetics 0 1 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1

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