Variants studied for Ehlers-danlos syndrome, arthrochalasia type, 2

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
7	6	56	13	53	135

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	total
COL1A2	7	5	56	13	53	134
COL1A1	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	51	13	53	117
OMIM	6	0	0	0	0	6
Genome-Nilou Lab	0	0	0	0	4	4
Baylor Genetics	0	1	0	0	0	1
Centogene AG - the Rare Disease Company	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	1
NIHR Bioresource Rare Diseases, University of Cambridge	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Ege University Pediatric Genetics, Ege University	0	0	1	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	0	1	0	0	1
Genomic Medicine Lab, University of California San Francisco	0	0	1	0	0	1
3billion	1	0	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	1

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