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
16 41 185 51 95 380

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
CYP11B1, LOC106799833 13 33 76 27 23 165
CYP11B1 2 5 65 7 32 110
CYP11B2, LOC106799834 0 0 38 13 40 91
CYP11B1, LOC110673972 0 2 6 3 0 11
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 12 37 95 27 2 173
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 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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