ClinVar Miner

Variants studied for acromegaly

Included ClinVar conditions (5):
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
12 13 57 12 17 59 148

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AIP 9 8 41 11 15 48 116
AIP, LOC130006206 0 0 13 1 2 9 22
MEN1 1 2 0 0 0 0 3
GNAS 0 0 2 0 0 0 2
GPR101 2 0 1 0 0 2 2
AIP, LOC130006204 0 1 0 0 0 0 1
AIP, LOC130006204, LOC130006205, LOC130006206, LOC130006207 0 1 0 0 0 0 1
AIP, LOC130006206, LOC130006207 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneReviews 0 8 0 1 0 59 68
Baylor Genetics 1 3 39 0 0 0 43
Illumina Laboratory Services, Illumina 1 0 10 10 17 0 38
OMIM 10 0 0 0 0 0 10
Fulgent Genetics, Fulgent Genetics 0 0 4 1 0 0 5
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 5 0 0 0 5
Aziz Sancar Institute of Experimental Medicine, Istanbul University 2 2 0 0 0 0 4
Mendelics 0 0 3 0 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 3 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 1

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