Variants studied for hypertrophic osteoarthropathy, primary, autosomal recessive, 1

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
12	2	48	11	13	85

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
HPGD	12	2	48	11	13	85

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	46	9	12	67
OMIM	7	0	0	0	0	7
Fulgent Genetics, Fulgent Genetics	0	0	2	1	1	4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	1	1	0	0	0	2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	2	0	0	0	0	2
Division of Pediatric Nephrology, Shenzhen Children's Hospital	2	0	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
3billion	0	0	1	1	0	2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	1	0	0	0	0	1
Yale Center for Mendelian Genomics, Yale University	1	0	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	1	0	0	0	0	1
Clinical Genetics Laboratory, Skane University Hospital Lund	1	0	0	0	0	1
Department of Human Genetics, Hannover Medical School	1	0	0	0	0	1
Department of Rheumatology and Immunology, Wuhan Children's Hospital	1	0	0	0	0	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	0	1	0	0	0	1
Prenatal Diagnosis Center, International Peace Maternity & Child Health Hospital	1	0	0	0	0	1

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