Variants studied for Camptodactyly-arthropathy-coxa vara-pericarditis syndrome

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
27	10	3	0	5	42

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
PRG4	23	8	3	5	36
PRG4, TPR	4	2	0	0	6

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
Yale Center for Mendelian Genomics, Yale University	9	0	0	0	9
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	5	1	1	0	7
OMIM	6	0	0	0	6
Revvity Omics, Revvity	3	0	1	0	4
Centogene AG - the Rare Disease Company	0	3	0	0	3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	1	1	0	3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	3	3
Genome-Nilou Lab	0	0	0	3	3
3billion	3	0	0	0	3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	2	0	0	0	2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	2	0	0	0	2
Mendelics	0	1	0	0	1
Fulgent Genetics, Fulgent Genetics	0	1	0	0	1
Illumina Laboratory Services, Illumina	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	0	1

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