ClinVar Miner

Variants studied for ACTH-independent Cushing syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
35 11 44 36 3 126

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GNAS 14 2 31 33 3 81
ARMC5 13 9 13 2 0 36
ARMC5, LOC130058906 3 0 0 1 0 4
KDM1A 4 0 0 0 0 4
PRKACA 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 9 4 25 35 2 75
OMIM 16 0 0 0 0 16
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 1 1 10
Molecular Medicine Laboratory, University of Brescia 3 3 0 0 0 6
3billion 0 0 2 0 0 2
Baylor Genetics 0 0 2 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 2
Revvity Omics, Revvity 1 0 1 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 1
Clinical Genomics, G42 Labs 0 1 0 0 0 1
Department of Hematologic Diagnostics and Genetics, Jagiellonian University Hospital in Krakow 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 1
Translational Medicine Institute, Shanxi Medical University 0 1 0 0 0 1

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