ClinVar Miner

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

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 3 179 195 18 1 414

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 3 178 195 18 1 413
CAVIN1, STAT3, STAT5A, STAT5B 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 14 2 171 195 18 0 400
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 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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