Variants studied for Ehlers-Danlos syndrome, kyphoscoliotic type

Minimum submission review status:		Collection method:
Minimum conflict level:
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
14	3	116	47	15	178

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
PLOD1	14	3	116	47	13	176
MFN2, PLOD1	0	0	0	0	2	2

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	2	1	70	36	9	118
Illumina Clinical Services Laboratory,Illumina	0	0	45	11	6	62
OMIM	10	0	0	0	0	10
Baylor Miraca Genetics Laboratories,	3	0	1	0	0	4
Genomic Research Center,Shahid Beheshti University of Medical Sciences	1	1	2	0	0	4
Fulgent Genetics	0	0	2	0	0	2
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics	0	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	0	1

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