Variants studied for Ehlers-Danlos syndrome, musculocontractural type

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	not provided	total
14	2	81	65	5	3	166

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	not provided	total
CHST14	11	2	62	52	5	3	131
CHST14, LOC130056851	3	0	19	13	0	0	35

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	12	1	79	65	5	0	162
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	0	0	0	2
UniProtKB/Swiss-Prot	0	0	0	0	0	2	2
Institute of Human Genetics, University of Leipzig Medical Center	0	0	2	0	0	0	2
Genetic Services Laboratory, University of Chicago	0	1	0	0	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	0	1	0	0	0	1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research	1	0	0	0	0	0	1

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