ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
25 5 204 224 18 1 469

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
STAT5B 25 4 203 224 18 1 467
CAVIN1, STAT3, STAT5A, STAT5B 0 0 1 0 0 0 1
ERCC6L2 0 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 not provided total
Labcorp Genetics (formerly Invitae), Labcorp 15 2 194 222 18 0 451
OMIM 5 0 0 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 1 2 1 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 2 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
New York Genome Center 0 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 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
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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