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
16 20 165 118 45 344

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Epileptic encephalopathy, early infantile, 25 14 13 149 57 7 234
not provided 4 4 26 30 33 97
not specified 0 0 1 54 8 63
Seizures 1 0 8 11 3 23
Epileptic encephalopathy 0 2 0 0 0 2
Global developmental delay; Seizures; Chronic kidney disease 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 1
Undetermined early-onset epileptic encephalopathy 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 9 5 143 67 7 231
GeneDx 3 3 22 67 39 134
Ambry Genetics 1 0 8 11 3 23
OMIM 9 0 0 0 0 9
Baylor Genetics 1 2 6 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 4 1 0 7
Mendelics 1 4 0 0 0 5
Athena Diagnostics Inc 0 0 1 1 2 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 0 0 0 0 4
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 3
Fulgent Genetics,Fulgent Genetics 1 1 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 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

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