Variants studied for Autosomal dominant isolated somatotropin deficiency

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	total
16	4	4	0	1	24

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
GH-LCR, GH1	13	4	4	1	21
MED13	3	0	0	0	3

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	13	0	0	0	13
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University	3	1	0	0	4
Mendelics	1	0	0	1	2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	2	0	0	2
Baylor Genetics	0	0	1	0	1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique	0	1	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	1	0	1
3billion, Medical Genetics	1	0	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital	0	1	0	0	1

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