ClinVar Miner

Variants studied for Neuronal ceroid lipofuscinosis 7; Macular dystrophy with central cone involvement

Coded as:
Minimum submission review status: Collection method:
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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 total
0 1 4 0 0 5

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination likely pathogenic uncertain significance total
MFSD8 1 4 5

Submitter and significance breakdown #

Total submitters: 2
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Submitter likely pathogenic uncertain significance total
Fulgent Genetics,Fulgent Genetics 1 2 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 2

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