ClinVar Miner

Variants studied for Autosomal dominant osteopetrosis 2; Autosomal recessive osteopetrosis 4; Hypopigmentation, organomegaly, and delayed myelination and development

Coded as:
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 total
0 1 4 1 0 6

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination likely pathogenic uncertain significance likely benign total
CLCN7 1 4 0 5
CLCN7, LOC130058166 0 0 1 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter likely pathogenic uncertain significance likely benign total
Fulgent Genetics, Fulgent Genetics 0 3 1 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 1

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