Variants studied for Ehlers-Danlos syndrome, kyphoscoliotic type 1

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
25	4	232	69	28	337

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PLOD1	25	4	231	69	25	333
LOC112577486, PLOD1	0	0	1	0	1	2
MFN2, PLOD1	0	0	0	0	2	2

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	14	3	176	63	11	267
Illumina Clinical Services Laboratory,Illumina	0	0	62	8	17	87
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	1	0	7	7	19	34
OMIM	10	0	0	0	0	10
Baylor Genetics	3	0	4	0	0	7
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	2	0	0	3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	3	0	0	3
Mendelics	1	0	1	0	0	2
Fulgent Genetics,Fulgent Genetics	0	0	2	0	0	2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	0	0	0	1
Centre for Mendelian Genomics,University Medical Centre Ljubljana	0	0	1	0	0	1

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