ClinVar Miner

Variants in gene SLC13A5

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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 total
34 29 290 334 68 714

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Developmental and epileptic encephalopathy, 25 31 24 256 283 22 600
not provided 7 5 56 62 50 177
Inborn genetic diseases 1 2 33 32 3 71
not specified 0 0 2 36 8 46
Epileptic encephalopathy 0 2 0 0 0 2
Global developmental delay; Seizure; Chronic kidney disease 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 1
SLC13A5-related condition 0 0 1 0 0 1
See cases 0 0 1 0 0 1
Undetermined early-onset epileptic encephalopathy 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 27 11 238 281 21 578
GeneDx 6 3 50 86 56 201
Ambry Genetics 1 2 33 32 3 71
Genome-Nilou Lab 3 3 31 4 10 51
CeGaT Center for Human Genetics Tuebingen 1 1 3 17 0 22
Broad Institute Rare Disease Group, Broad Institute 2 5 9 0 0 16
Baylor Genetics 1 2 7 0 0 10
OMIM 9 0 0 0 0 9
Athena Diagnostics Inc 0 0 3 1 2 6
Mendelics 2 2 2 0 0 6
Revvity Omics, Revvity Omics 0 0 5 0 0 5
Fulgent Genetics, Fulgent Genetics 1 1 3 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 1 1 1 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 3 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 1 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 1 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Preventiongenetics, part of Exact Sciences 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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