Variants studied for Cushing syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
32	5	20	36	3	1	96

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
GNAS	11	0	11	33	2	0	56
ARMC5	11	5	4	1	0	0	21
AIP	0	0	4	1	0	1	6
USP8	5	0	1	0	0	0	6
ARMC5, LOC130058906	3	0	0	1	0	0	4
GNAI2	1	0	0	0	0	0	1
MEN1	0	0	0	0	1	0	1
PRKACA	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	7	0	15	36	2	0	60
OMIM	16	0	0	0	0	0	16
Molecular Medicine Laboratory, University of Brescia	3	3	0	0	0	0	6
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	5	0	0	0	0	0	5
Baylor Genetics	0	0	2	0	0	0	2
Revvity Omics, Revvity	1	0	1	0	0	0	2
Division of Human Genetics, Children's Hospital of Philadelphia	0	0	2	0	0	0	2
Genetics and Molecular Pathology, SA Pathology	2	0	0	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	0	0	1
GeneReviews	0	0	0	0	0	1	1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	1	0	0	0	0	0	1
Department of Hematologic Diagnostics and Genetics, Jagiellonian University Hospital in Krakow	0	1	0	0	0	0	1
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)	0	0	0	0	1	0	1

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