ClinVar Miner

Variants studied for glucocorticoid-remediable aldosteronism

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 total
10 14 106 48 95 270

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CYP11B2, LOC106799834 0 0 38 13 40 91
CYP11B1, LOC106799833 8 11 23 25 23 87
CYP11B1 1 2 44 7 32 86
CYP11B1, LOC110673972 0 0 1 2 0 3
CYP11B1, CYP11B2, LOC106799833, LOC106799834, LOC110673972 1 0 0 0 0 1
CYP11B2, LOC106799834, LOC110673971 0 0 0 1 0 1
HBD, LOC106099063 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 93 24 94 211
Fulgent Genetics, Fulgent Genetics 6 10 14 24 2 56
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 3 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 3
Mendelics 2 0 0 0 0 2
OMIM 1 0 0 0 0 1

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