ClinVar Miner

Variants studied for Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia

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 not provided total
13 49 52 8 2 1 125

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 not provided total
NBN 12 48 52 7 2 1 122
LOC126860438, NBN 1 1 0 1 0 0 3

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 13 47 50 8 2 0 120
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 2 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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