ClinVar Miner

Variants studied for isolated congenital growth hormone deficiency

Included ClinVar conditions (10):
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 total
201 51 199 181 63 681

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BTK 146 35 141 172 49 531
GHRHR 12 9 42 4 9 76
GH-LCR, GH1 22 4 11 5 3 43
RNPC3 9 1 2 0 2 14
MED13 3 0 0 0 0 3
CRIPT 2 0 0 0 0 2
GH1 2 0 0 0 0 2
​intergenic 1 0 0 0 0 1
ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX6, BTK, CENPI, CSTF2, DRP2, GLA, HNRNPH2, NOX1, NXF5, PCDH19, RPL36A, RPL36A-HNRNPH2, SRPX2, SYTL4, TAF7L, TIMM8A, TMEM35A, TNMD, TRMT2B, TSPAN6, XKRX 0 0 1 0 0 1
BRCA2 1 0 0 0 0 1
BTK, GLA, HNRNPH2, RPL36A, RPL36A-HNRNPH2 1 0 0 0 0 1
BTK, GLA, RPL36A, RPL36A-HNRNPH2 0 0 1 0 0 1
BTK, TIMM8A 1 0 0 0 0 1
CSHL1, GH-LCR, GH1 0 0 1 0 0 1
DNA2 0 1 0 0 0 1
POC1A 0 1 0 0 0 1
XRCC4 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 147 33 131 166 43 520
Illumina Laboratory Services, Illumina 0 0 50 11 15 76
OMIM 40 0 0 0 0 40
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 4 2 0 0 10
Baylor Genetics 0 1 8 0 0 9
Fulgent Genetics, Fulgent Genetics 2 0 1 4 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 2 0 0 0 6
Endocrinology Clinic, Seth G.S. Medical College 3 3 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 6
3billion 4 0 0 1 0 5
Revvity Omics, Revvity 2 1 1 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 3 0 0 4
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 4 0 0 0 4
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 3 1 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 1 0 0 3
Athena Diagnostics 0 0 0 0 2 2
Mendelics 1 0 0 0 1 2
Department of Pediatric Endocrinology, Ondokuz Mayis University 2 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 2
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 0 1 0 0 0 1

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