ClinVar Miner

Variants in gene SLC25A22

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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
11 5 191 119 42 314

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Early infantile epileptic encephalopathy with suppression bursts 4 0 90 51 9 154
Early myoclonic encephalopathy 6 3 81 2 15 106
not specified 0 0 6 68 30 95
not provided 2 2 42 30 6 75
Seizures 0 0 7 12 7 26
Early Infantile Epileptic Encephalopathy, Autosomal Recessive 0 0 7 1 0 8
Epileptic encephalopathy, early infantile, 3 0 0 2 0 0 2
Macrocephalus; Developmental delay 0 0 1 0 0 1
Malignant tumor of prostate 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 4 0 90 58 9 161
GeneDx 2 2 25 69 29 127
Illumina Clinical Services Laboratory,Illumina 0 0 82 3 15 100
Ambry Genetics 0 0 6 12 7 25
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 16 4 3 23
Genetic Services Laboratory, University of Chicago 1 1 8 4 6 20
Athena Diagnostics Inc 0 0 2 3 3 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 4 0 7
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 1 3 1 6
PreventionGenetics, PreventionGenetics 0 0 0 1 4 5
OMIM 3 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Medical Genetic Team,CHRU Montpellier 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 1

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