Variants studied for Ehlers-Danlos syndrome, musculocontractural 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
2	0	118	101	15	235

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	total
DSE	2	118	101	14	234
DSE, LOC129997034, TSPYL1	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	uncertain significance	likely benign	benign	total
Invitae	0	113	101	14	228
Baylor Genetics	0	6	0	0	6
Fulgent Genetics, Fulgent Genetics	0	0	2	1	3
OMIM	2	0	0	0	2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	0	1	0	1	2
Genome-Nilou Lab	0	0	0	2	2
Revvity Omics, Revvity	0	1	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	1

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