Variants studied for Growth hormone insensitivity with immune dysregulation 1, autosomal recessive

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
23	3	177	195	18	1	412

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
STAT5B	23	3	176	195	18	1	411
CAVIN1, STAT3, STAT5A, STAT5B	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	14	2	170	195	18	0	399
OMIM	5	0	0	0	0	0	5
New York Genome Center	0	0	3	0	0	0	3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	2	0	0	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	1	0	0	0	2
Baylor Genetics	1	0	0	0	0	0	1
Mendelics	1	0	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	1	0	0	0	0	1
Hwa Lab, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine	1	0	0	0	0	0	1
Pfaffle Lab, University Hospital for Children and Adolescents, University of Leipzig	1	0	0	0	0	0	1
Paediatric Endocrinology - Genetics and Genomic Medicine Program, University College London - Great Ormond Street Institute of Child Health	1	0	0	0	0	0	1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	0	1	0	0	0	1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini	0	0	1	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1

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