ClinVar Miner

Variants studied for acute necrotizing encephalopathy of childhood

Included ClinVar conditions (2):
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 risk factor total
31 38 79 26 6 1 172

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
CPT2 26 36 72 23 6 1 155
CPT2, LOC129930561 5 2 7 3 0 0 17

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Genome-Nilou Lab 0 0 75 23 6 0 104
Fulgent Genetics, Fulgent Genetics 11 8 44 15 0 0 78
Baylor Genetics 31 34 0 0 0 0 65
OMIM 0 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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